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Polymorphisme Génétique
(polymorphisme (genetique))


The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.

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  • Polymorphisme Génétique: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.
  • Polymorphisme Simple Nucléotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
  • Polymorphisme Fragment Adn: Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.
  • Génotype: The genetic constitution of the individual; the characterization of the genes.
  • Prédisposition Génétique : A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
  • Réaction Polymérisation En Chaîne: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
  • Adulte D'
  • Haplotype: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.
  • Fréquence Génique: The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.
  • Adulte: A person having attained full growth or maturity. Adults are of 19 through 44 years of age.
  • Genetic Association Studies
  • : Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.
  • Sujet : Personne âgée de 65 à 79 ans. Pour les personne plus âgées, le terme disponible est ADULTE DE 80 ANS ET PLUS.
  • Allèles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
  • Déséquilibre Linkage: Nonrandom association of linked genes. This is the tendency of the alleles of two separate but already linked loci to be found together more frequently than would be expected by chance alone.
  • Polymorphisme Conformationnel Simple Brin: Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels.
  • Homozygote: An individual in which both alleles at a given locus are identical.
  • Adolescent: Personne âgée de 13 à 18 ans.
  • Variation (Génétique): Différences phénotypiques et génotypiques parmi les individus d'une population.
  • Séquence Nucléotidique: Séquences de purines et de pyrimidines dans les acides nucléiques et les polynucléotides. Un synonyme est : séquence de bases.
  • Phénotype: Aspect extérieur de l'individu. C'est le produit des interactions entre les gènes, et entre le G
  • Promoter Regions, Genetic
  • Odds Ratio: The ratio of two odds. The exposure-odds ratio for case control data is the ratio of the odds in favor of exposure among cases to the odds in favor of exposure among noncases. The disease-odds ratio for a cohort or cross section is the ratio of the odds in favor of disease among the exposed to the odds in favor of disease among the unexposed. The prevalence-odds ratio refers to an odds ratio derived cross-sectionally from studies of prevalent cases.
  • China
  • Hétérozygote: An individual having different alleles at one or more loci regarding a specific character.
  • Male
  • Adulte De 80 Ans Et Plus: A person 80 years of age and older.
  • Détermination Séquence Adn: A multistage process that includes DNA cloning, physical mapping, subcloning, sequencing, and information analysis.
  • Amorces Adn: Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.
  • Analyse Mutations Adn: Identification biochimique de mutation dans une séquence de nucléotides.
  • Substitution D'Un Acide Aminé: The naturally occurring or experimentally induced replacement of one or more amino acids in a protein with another. If a functionally equivalent amino acid is substituted, the protein may retain wild-type activity. Substitution may also diminish or eliminate protein function. Experimentally induced substitution is often used to study enzyme activities and binding site properties.
  • Enfant: Personne âgée de 6 à 12 ans. Une personne âgée de 2 à 5 ans est un enfant d'âge préscolaire.
  • Young Adult
  • Marqueur Génétique: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
  • Exon: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or structural RNA.
  • Données Séquence Moléculaire: Descriptions de séquences d'acides aminés, de glucides, ou de nucléotides qui sont publiées dans la littérature et/ou sont brevetées et stockées dans des banques de données telles que GenBank, le laboratoire moléculaire européen de biologie (EMBL), la fondation biomédicale nationale de recherches (NBRF), ou d'autres dépositaires de séquences.
  • Intron: Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.
  • Pharmacogénétique: A branch of genetics which deals with the genetic variability in individual responses to drugs and drug metabolism (BIOTRANSFORMATION).
  • Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
  • Génétique Des Populations: Discipline étudiant la composition génétique des populations et les effets des facteurs tels que la sélection (G
  • Japan
  • Korea
  • Codon: A set of three nucleotides in a protein coding sequence that specifies individual amino acids or a termination signal (CODON, TERMINATOR). Most codons are universal, but some organisms do not produce the transfer RNAs (RNA, TRANSFER) complementary to all codons. These codons are referred to as unassigned codons (CODONS, NONSENSE).
  • Risque: The probability that an event will occur. It encompasses a variety of measures of the probability of a generally unfavorable outcome.
  • Biais Publication: L'influence des résultats d'une étude sur les chances de publication et la tendance des investigateurs, des relecteurs, et des rédacteurs de soumettre ou accepter des manuscrits pour la publication fondée sur la direction ou la force des résultats de cette étude. Les biais de publication ont un impact sur l'interprétation des essais cliniques et des méta-analyses . Les biais peuvent être réduits au minimum par l'insistance des rédacteurs sur une recherche de haute qualité, grâce à des revues de la littérature, la reconnaissance des conflits d'intérêt, la modification des pratiques en matière de comités de pairs, etc...
  • : Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics.
  • Animaux: Unicellular or multicellular, heterotrophic organisms, that have sensation and the power of voluntary movement. Under the older five kingdom paradigm, Animalia was one of the kingdoms. Under the modern three domain model, Animalia represents one of the many groups in the domain Eukarya.
  • Asian Continental Ancestry Group
  • Amplified Fragment Length Polymorphism Analysis
  • Facteur Risque: Aspect du comportement ou du style de vie personnel, exposition environnementale, ou caractéristique innée ou héritée, qui, sur la base d'une évidence épidémiologique, est connue pour être associée à un état sanitaire et considéré comme étant important pour la prévention.
  • Genome-Wide Association Study
  • Cytosine: A pyrimidine base that is a fundamental unit of nucleic acids.
  • Genetic Testing
  • Thymine
  • Minisatellites: Tandem arrays of moderately repetitive (5-50 repeats) short (10-60 bases) DNA sequences found dispersed throughout the genome and clustered near telomeres. Their degree of repetition is two to several hundred at each locus. Loci number in the thousands but each locus shows a distinctive repeat unit. Minisatellite repeats are often called variable number of tandem repeats.
  • Modèle Génétique: Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.
  • Enfant D': Enfant âgée de 2 à 5 ans.
  • INDEL Mutation
  • Distribution Chi: Distribution dans laquelle une variable est distribuée comme la somme des carrés de n'importe quelle variable aléatoire indépendante, chacune d'elle a une distribution normale d'une moyenne de zéro et d'une variance de 1. Le test chi carré est un test statistique basé sur la comparaison d'un test statistique à une distribution chi carré. Les plus anciens de ces tests sont utilisés pour détecter si deux ou plusieurs population différent l'une de l'autre.
  • Délétion Génique: Réarrangement génétique par la perte de segments de d'ADN ou d'ARN, rapprochant des séquences qui sont normalement éloignées. Cette suppression peut être détectée en utilisant des techniques cytogénétiques et peut également être révélée par le phénotype, indiquant une délétion à un lieu spécifique.
  • India
  • Genetic Linkage
  • Mutation Faux Sens: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
  • : The age or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.
  • European Continental Ancestry Group
  • Type Ii Site-Specific Deoxyribonuclease: Enzyme systems containing a single subunit and requiring only magnesium for endonucleolytic activity. The corresponding modification methylases are separate enzymes. The systems recognize specific short DNA sequences and cleave either within, or at a short specific distance from, the recognition sequence to give specific double-stranded fragments with terminal 5'-phosphates. Enzymes from different microorganisms with the same specificity are called isoschizomers. EC 3.1.21.4.
  • : A gene interaction whereby the expression of one gene interfers with or masks the expression of a different gene or genes. Genes whose expression interfers with or masks the effects of other genes are said to be epistatic to the effected genes. Genes whose expression is effected (blocked or masked) are hypostatic to the interfering genes.
  • Female
  • Turkey
  • Tunisia
  • Genotyping Techniques
  • Mutation Ponctuelle: A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.
  • Cartographie Chromosomique: Any method used for determining the location of and relative distances between genes on a chromosome.
  • Modèle Logistique: Statistical models which describe the relationship between a qualitative dependent variable (that is, one which can take only certain discrete values, such as the presence or absence of a disease) and an independent variable. A common application is in epidemiology for estimating an individual's risk (probability of a disease) as a function of a given risk factor.
  • Mutagénèse Insertionnelle: Mutagenesis where the mutation is caused by the introduction of foreign DNA sequences into a gene. This may occur spontaneously in vivo or be experimentally induced in vivo or in vitro. Proviral DNA can be inserted into or adjacent to a cellular proto-oncogene. Insertion of the provirus can cause mutations by interrupting coding sequences or regulatory elements, or cause unregulated expression of the proto-oncogene resulting in tumor formation.
  • Microsatellites: A variety of simple di- (DINUCLEOTIDE REPEATS), tri- (TRINUCLEOTIDE REPEATS), tetra-, and pentanucleotide tandem repeats (usually less than 100 bases long). They are dispersed in the euchromatic arms of most chromosomes. They are also known as short tandem repeats (STRs).
  • Poland
  • Détection Hétérozygote: Identification des porteurs génétiques pour un caractère donné.
  • Délétion Séquentielle: Délétion de séquences de bases ou d'acides aminés du matériel génétique d'un individu. L'évidence de ces suppressions peut être obtenue par des méthodes cytologiques.
  • Transport Membranaire, Protéines: Membrane proteins whose primary function is to facilitate the transport of molecules across a biological membrane. Included in this broad category are proteins involved in active transport (BIOLOGICAL TRANSPORT, ACTIVE), facilitated transport and ION CHANNELS.
  • CTLA-4 Antigen
  • Brazil
  • Transporteurs De La Sérotonine: Sodium chloride-dependent neurotransmitter symporters located primarily on the PLASMA MEMBRANE of serotonergic neurons. They are different than SEROTONIN RECEPTORS, which signal cellular responses to SEROTONIN. They remove SEROTONIN from the EXTRACELLULAR SPACE by high affinity reuptake into PRESYNAPTIC TERMINALS. Regulates signal amplitude and duration at serotonergic synapses and is the site of action of the SEROTONIN UPTAKE INHIBITORS.
  • Généalogie: Reconstitution de la descendance ou de l'ascendance, pour des caractères ou des traits, indiquant différents membres d'une famille, leurs rapports, et leur statut en ce qui concerne le caractère ou le trait.
  • Valeur Référence: étendue ou distribution de fréquence de la mesure d'une population (d'organismes, d'organes ou d'objets) qui n'a pas été sélectionnée pour la présence d'une maladie ou d'une malformation.
  • Taiwan
  • Pronostic: A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations.
  • Génome Humain: The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.
  • Tabagisme: Inhaling and exhaling the smoke of tobacco or something similar to tobacco.
  • Guanine
  • Nourrisson: Enfant âgé de 1 à 23 mois.
  • : Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group.
  • Phylogénie: Relations entre des groupes d'organismes réflétées par leur marquage génétique.
  • Séquences Répétées En Tandem: Copies of DNA sequences which lie adjacent to each other in the same orientation (direct tandem repeats) or in the opposite direction to each other (inverted tandem repeats).
  • Iran
  • Répétition Dinucléotide: The most common of the microsatellite tandem repeats (MICROSATELLITE REPEATS) dispersed in the euchromatic arms of chromosomes. They consist of two nucleotides repeated in tandem; guanine and thymine, (GT)n, is the most frequently seen.
  • Régions 3' Non Traduites: The sequence at the 3' end of messenger RNA that does not code for product. This region contains transcription and translation regulating sequences.
  • Adn: Polymère de déoxyribonucleotide qui est le matériel génétique primaire de toutes les cellules. Les organismes eucaryotes et procaryotes contiennent normalement l'ADN à l'état bicaténaire; pourtant plusieurs processus biologiques importants impliquent transitoirement des régions avec une chaîne. L'ADN est composée de polysaccharides phosphatés ramifiées par des purines (adénine et guanine) et des pyrimidines (thymine et cytosine). Elle forme une double hélice avec des liaisons hydrogène entre ces purines et pyrimidines (adénine liée à la thymine et guanine liée à la cytosine).
  • : Estimation quantitative ou qualitative de la probabilité d'apparition d'effets indésirables résultants de risques sanitaires spécifiques ou de l'absence d'influences bénéfiques. (Last, Dictionary of Epidemiology, 1988)
  • Gene-Environment Interaction
  • Facteur Sexuel: Sexe comme élément constitutif ou influent contribuant à la production d'un résultat. ll peut être applicable à la cause ou l'effet d'une circonstance. Il est employé avec des concepts humains ou animaux mais devrait être différencié des caractères sexuels, manifestations anatomiques ou physiologiques, et de distribution selon sexe , nombre de mâles ou de femelles dans des circonstances données.
  • Sensibilité : A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases.
  • Hétérogénéité Génétique: The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)
  • Séquence Des Acides Aminés: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
  • Indice Masse Corporelle: An indicator of body density as determined by the relationship of BODY WEIGHT to BODY HEIGHT. BMI=weight (kg)/height squared (m2). BMI correlates with body fat (ADIPOSE TISSUE). Their relationship varies with age and gender. For adults, BMI falls into these categories: below 18.5 (underweight); 18.5-24.9 (normal); 25.0-29.9 (overweight); 30.0 and above (obese). (National Center for Health Statistics, Centers for Disease Control and Prevention)
  • Réaction Polymérisation En Chaîne Par Transcriptase Inverse: A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.
  • : Détérioration d'une maladie avec le temps. Ce concept est surtout employé pour des maladies chroniques et incurables, où le stade de la maladie est déterminant pour le traitement et le pronostic.
  • Italy
  • Analyse Variance: Technique statistique qui localise et évalue les contributions de variables de catégories indépendantes dans la variation de la moyenne d'une variable dépendante continue.
  • Spain
  • Nitric Oxide Synthase Type Iii: A CALCIUM-dependent, constitutively-expressed form of nitric acid synthase found primarily in ENDOTHELIAL CELLS.
  • Récepteur D4 De La Dopamine: A subtype of dopamine D2 receptors that has high affinity for the antipsychotic CLOZAPINE.
  • Mexico
  • Cartographie De Restriction: Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.
  • Aryldialkylphosphatase: An enzyme which catalyzes the hydrolysis of an aryl-dialkyl phosphate to form dialkyl phosphate and an aryl alcohol. It can hydrolyze a broad spectrum of organophosphate substrates and a number of aromatic carboxylic acid esters. It may also mediate an enzymatic protection of LOW DENSITY LIPOPROTEINS against oxidative modification and the consequent series of events leading to ATHEROMA formation. The enzyme was previously regarded to be identical with Arylesterase (EC 3.1.1.2).
  • Méthylènetétrahydrofolate Réductase (Nadph2): Une flavoprotéine amine oxidoreductase qui catalyse la conversion reversible du 5-Méthyltetrahydrofolate en 5,10-Méthyltetrahydrofolate. Cette enzyme était anciennement classifiée en tant que EC 1.1.1.171.
  • Czech Republic
  • Grossesse: The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.
  • Transposons: Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.
  • Family Health
  • Indice De Gravité: Niveaux de sévérité d'une maladie dans un groupe diagnostic qui sont établis par divers critères de mesure.
  • Protéine Ercc2: A DNA helicase that is a component of TRANSCRIPTION FACTOR TFIIH. It plays an essential role in NUCLEOTIDE EXCISION REPAIR, and mutations in this protein are associated with XERODERMA PIGMENTOSUM.
  • Glutathione S-Transferase Pi: A glutathione transferase that catalyzes the conjugation of electrophilic substrates to GLUTATHIONE. This enzyme has been shown to provide cellular protection against redox-mediated damage by FREE RADICALS.
  • Intervalle De Confiance: A range of values for a variable of interest, e.g., a rate, constructed so that this range has a specified probability of including the true value of the variable.
  • HLA-DRB1 Chains
  • Republic of Korea
  • Protéines Tissu Nerveux
  • : Electrophoresis in which agar or agarose gel is used as the diffusion medium.
  • Apolipoprotéine E4: A major and the second most common isoform of apolipoprotein E. In humans, Apo E4 differs from APOLIPOPROTEIN E3 at only one residue 112 (cysteine is replaced by arginine), and exhibits a lower resistance to denaturation and greater propensity to form folded intermediates. Apo E4 is a risk factor for ALZHEIMER DISEASE and CARDIOVASCULAR DISEASES.
  • Adénine: Base de purine qui est une unité fondamentale des nucléotides d'adénine.
  • Antagoniste Du Récepteur : A ligand that binds to but fails to activate the INTERLEUKIN-1 RECEPTOR. It plays an inhibitory role in the regulation of INFLAMMATION and FEVER. Several isoforms of the protein exist due to multiple ALTERNATIVE SPLICING of its mRNA.
  • : Evolution at the molecular level of DNA sequences and proteins. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)
  • Caractère Sexuel: Those characteristics that distinguish one SEX from the other. The primary sex characteristics are the OVARIES and TESTES and their related hormones. Secondary sex characteristics are those which are masculine or feminine but not directly related to reproduction.
  • Séquences Répétitives Acide Nucléique: Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted.
  • Genetic Loci
  • Analyse Régression: Procedures for finding the mathematical function which best describes the relationship between a dependent variable and one or more independent variables. In linear regression (see LINEAR MODELS) the relationship is constrained to be a straight line and LEAST-SQUARES ANALYSIS is used to determine the best fit. In logistic regression (see LOGISTIC MODELS) the dependent variable is qualitative rather than continuously variable and LIKELIHOOD FUNCTIONS are used to find the best relationship. In multiple regression, the dependent variable is considered to depend on more than a single independent variable.
  • Egypt
  • Régions 5' Non Traduites: The sequence at the 5' end of the messenger RNA that does not code for product. This sequence contains the ribosome binding site and other transcription and translation regulating sequences.
  • Selection, Genetic
  • Répétition Trinucléotide: Microsatellite repeats consisting of three nucleotides dispersed in the euchromatic arms of chromosomes.
  • Gène P53: Tumor suppressor genes located on the short arm of human chromosome 17 and coding for the phosphoprotein p53.
  • Bases De Données, Génétique: Base de données consacrées à la connaissance de gènes spécifiques et de produits de gène.
  • Empreinte Génétique: Procédé par lequel des profils à plusieurs bandes sont produits par la digestion de l'ADN avec des enzymes de restriction suivie d'une électrophorèse, ces profils sont visualisés par hybridation avec des sondes spécifiques de séquences répétées. En médecine légale les sondes utilisées sont des séquences "core" spécifiques de séquences répétées en tandem simples (Séquences répétition motif base (minisatellites) ou VNTRs). Les profils de migration à plusieurs bandes connus sous le nom d'empreintes digitales d'ADN, sont évalués pour leurs similitudes avec l'ADN d'un individu.
  • : Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.
  • Méthionine: A sulfur containing essential amino acid that is important in many body functions. It is a chelating agent for heavy metals.
  • Régulation Expression Génique: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action at the level of transcription or translation. These processes include gene activation and genetic induction.
  • Facteur : âge comme élément constitutif ou influent contribuant à la production d'un résultat. Il peut être applicable à la cause ou l'effet d'une circonstance. Il est employé avec des concepts humains ou animaux mais devrait être différencié du vieillissement, processus physiologique, et du facteur temps qui se réfère seulement au passage du temps.
  • Alanine: A non-essential amino acid that occurs in high levels in its free state in plasma. It is produced from pyruvate by transamination. It is involved in sugar and acid metabolism, increases IMMUNITY, and provides energy for muscle tissue, BRAIN, and the CENTRAL NERVOUS SYSTEM.
  • Expression Génique: La manifestation phénotypique d'un gène ou des gènes par les processus du fonctionnement du gène.
  • Dépistage Néonatal: Identification de paramètres choisis chez les enfants nouveau-nés par divers tests, examens, ou d'autres procédures. Le criblage peut être effectué par des mesures cliniques ou de laboratoire. Un test de criblage est conçu pour trier les nouveaux-nés en bonne santé (enfant, nouveau-né) de ceux malades, mais le test de criblage n'est pas prévu comme dispositif diagnostique, mais plutôt comme dispositif épidémiologique.
  • : Studies in which the presence or absence of disease or other health-related variables are determined in each member of the study population or in a representative sample at one particular time. This contrasts with LONGITUDINAL STUDIES which are followed over a period of time.
  • Analyse Multivariée: A set of techniques used when variation in several variables has to be studied simultaneously. In statistics, multivariate analysis is interpreted as any analytic method that allows simultaneous study of two or more dependent variables.
  • Arginine: Acide aminé essentiel physiologiquement en activité dans la forme L.
  • Molecular Epidemiology
  • Gène Mdr: Genes for MEMBRANE TRANSPORT PROTEINS that confer resistance to toxic compounds. Several superfamilies of these multidrug export proteins are known and found in both prokaryotes and eukaryotes.
  • Famille Multigénique: A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)
  • 5'-Nucleotidase: A glycoprotein enzyme present in various organs and in many cells. The enzyme catalyzes the hydrolysis of a 5'-ribonucleotide to a ribonucleoside and orthophosphate in the presence of water. It is cation-dependent and exists in a membrane-bound and soluble form. EC 3.1.3.5.
  • Proline: Acide aminé non essentiel qui est synthétisé de l'ACIDE GLUTAMIQUE. C'est un composant essentiel du COLLAG
  • : étude de suivi d'individus ou de populations afin d'évaluer les résultats d'expositions, de procédures, ou d'effets d'une caractéristique comme, par exemple, l'occurrence d'une maladie.
  • Desoxyribonuclease Hpaii: One of the Type II site-specific deoxyribonucleases (EC 3.1.21.4). It recognizes and cleaves the sequences C/CGG and GGC/C at the slash. HpaII is from Haemophilus parainfluenzae. Several isoschizomers have been identified. EC 3.1.21.-.
  • Prevalence
  • Apolipoprotéine C-Iii: A 9-kDa protein component of VERY-LOW-DENSITY LIPOPROTEINS and CHYLOMICRON REMNANTS. Apo C-III, synthesized in the liver, is an inhibitor of LIPOPROTEIN LIPASE. Apo C-III modulates the binding of chylomicron remnants and VLDL to receptors (RECEPTORS, LDL) thus decreases the uptake of triglyceride-rich particles by the liver cells and subsequent degradation. The normal Apo C-III is glycosylated. There are several polymorphic forms with varying amounts of SIALIC ACID (Apo C-III-0, Apo C-III-1, and Apo C-III-2).
  • Greece
  • Réparation De L'Adn: The reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule which contained damaged regions. The major repair mechanisms are excision repair, in which defective regions in one strand are excised and resynthesized using the complementary base pairing information in the intact strand; photoreactivation repair, in which the lethal and mutagenic effects of ultraviolet light are eliminated; and post-replication repair, in which the primary lesions are not repaired, but the gaps in one daughter duplex are filled in by incorporation of portions of the other (undamaged) daughter duplex. Excision repair and post-replication repair are sometimes referred to as "dark repair" because they do not require light.
  • Récepteur De La Sérotonine De Type 5-Ht2A: A serotonin receptor subtype found widely distributed in peripheral tissues where it mediates the contractile responses of variety of tissues that contain SMOOTH MUSCLE. Selective 5-HT2A receptor antagonists include KETANSERIN. The 5-HT2A subtype is also located in BASAL GANGLIA and CEREBRAL CORTEX of the BRAIN where it mediates the effects of HALLUCINOGENS such as LSD.
  • Vitamin K Epoxide Reductases
  • Alignement Séquences: Arrangement linéaire de deux ou plusieurs acides aminés, ou de bases d'un organisme ou de plusieurs organismes de façon à aligner des séquences partageant des propriétés communes. Le degré de ressemblance ou d'homologie entre les séquences est prédit informatiquement ou statistiquement d'après les poids moléculaires attribués aux éléments alignés entre les séquences. Ce procédé peut aussi servir d'indicateur potentiel du degré d'homologie génétique entre les organismes.
  • Hungary
  • Microscopie : Microscopy using an electron beam, instead of light, to visualize the sample, thereby allowing much greater magnification. The interactions of ELECTRONS with specimens are used to provide information about the fine structure of that specimen. In TRANSMISSION ELECTRON MICROSCOPY the reactions of the electrons that are transmitted through the specimen are imaged. In SCANNING ELECTRON MICROSCOPY an electron beam falls at a non-normal angle on the specimen and the image is derived from the reactions occurring above the plane of the specimen.
  • Glycocolle: A non-essential amino acid. It is found primarily in gelatin and silk fibroin and used therapeutically as a nutrient. It is also a fast inhibitory neurotransmitter.
  • Aryl Hydrocarbon Hydroxylases: A large group of cytochrome P-450 (heme-thiolate) monooxygenases that complex with NAD(P)H-FLAVIN OXIDOREDUCTASE in numerous mixed-function oxidations of aromatic compounds. They catalyze hydroxylation of a broad spectrum of substrates and are important in the metabolism of steroids, drugs, and toxins such as PHENOBARBITAL, carcinogens, and insecticides.
  • Facteur Temps: éléments d'intervalles de temps limités, contribuant à des résultats particuliers ou à des situations.
  • Cytochrome P-450 Cyp3A: A cytochrome P-450 monooxygenase that is involved in an NADPH-dependent electron transport pathway by oxidizing a variety of structurally unrelated compounds, including STEROIDS; FATTY ACIDS; and XENOBIOTICS. This enzyme has clinical significance due to its ability to metabolize a diverse array of clinically important drugs such as CYCLOSPORINE; VERAPAMIL; and MIDAZOLAM. This enzyme also catalyzes the N-demethylation of ERYTHROMYCIN.
  • Germany
  • Receptors, CCR2
  • Dénaturation Acide Nucléique: Disruption of the secondary structure of nucleic acids by heat, extreme pH or chemical treatment. Double strand DNA is "melted" by dissociation of the non-covalent hydrogen bonds and hydrophobic interactions. Denatured DNA appears to be a single-stranded flexible structure. The effects of denaturation on RNA are similar though less pronounced and largely reversible.
  • Finland
  • HLA-DQ beta-Chains
  • Protéines De Transfert Des Esters De Cholestérol: Proteins that bind to and transfer CHOLESTEROL ESTERS between LIPOPROTEINS such as LOW-DENSITY LIPOPROTEINS and HIGH-DENSITY LIPOPROTEINS.
  • Noyau Familial: A family composed of spouses and their children.
  • Thréonine: An essential amino acid occurring naturally in the L-form, which is the active form. It is found in eggs, milk, gelatin, and other proteins.
  • Biomarkers, Pharmacological
  • Reduced Folate Carrier Protein
  • Incidence
  • Facteur De Croissance Transformant Bêta 1: A subtype of transforming growth factor beta that is synthesized by a wide variety of cells. It is synthesized as a precursor molecule that is cleaved to form mature TGF-beta 1 and TGF-beta1 latency-associated peptide. The association of the cleavage products results in the formation a latent protein which must be activated to bind its receptor. Defects in the gene that encodes TGF-beta1 are the cause of CAMURATI-ENGELMANN SYNDROME.
  • Homologie Séquentielle Acide Nucléique: The sequential correspondence of nucleotides in one nucleic acid molecule with those of another nucleic acid molecule. Sequence homology is an indication of the genetic relatedness of different organisms and gene function.
  • Ethnic Groups
  • Portugal
  • Modèle Linéaire: Modèles statistiques dans lesquels on suppose que la valeur d'un paramètre pour une valeur indiquée d'un facteur, égale a + bx, où a et b sont des constantes. Les modèles prévoient une régression linéaire.
  • Sensibilité Et Spécificité (: Measures for assessing the results of diagnostic and screening tests. Sensitivity represents the proportion of truly diseased persons in a screened population who are identified as being diseased by the test. It is a measure of the probability of correctly diagnosing a condition. Specificity is the proportion of truly nondiseased persons who are so identified by the screening test. It is a measure of the probability of correctly identifying a nondiseased person. (From Last, Dictionary of Epidemiology, 2d ed)
  • Croatia
  • Dosage Génique: The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.
  • Isoleucine: An essential branched-chain aliphatic amino acid found in many proteins. It is an isomer of LEUCINE. It is important in hemoglobin synthesis and regulation of blood sugar and energy levels.
  • Real-Time Polymerase Chain Reaction
  • Locus : Locations, on the GENOME, of GENES or other genetic elements that encode or control the expression of a quantitative trait (QUANTITATIVE TRAIT, HERITABLE).
  • Récepteur D3 De La Dopamine: A subtype of dopamine D2 receptors that are highly expressed in the LIMBIC SYSTEM of the brain.
  • Lignée Cellulaire: Established cell cultures that have the potential to propagate indefinitely.
  • Spécificité Espèce: Restriction of a characteristic or response to the members of one species; it usually refers to that property of the immune response which differentiates one species from another on the basis of antigen recognition, but the concept is not limited to immunology and is used loosely at levels higher than the species.
  • Récepteur At1 De L'Angiotensine: Sous-type de récepteur de l'angiotensine que l'on retrouve à des concentrations élevées dans les tissus de l'appareil cardiovasculaire, du rein, du système endocrine, et du système nerveux. L'activation du récepteur de type 1 de l'angiotensine provoque une vasoconstriction et une rétention de sodium.
  • Statistiques Non Paramétriques: A class of statistical methods applicable to a large set of probability distributions used to test for correlation, location, independence, etc. In most nonparametric statistical tests, the original scores or observations are replaced by another variable containing less information. An important class of nonparametric tests employs the ordinal properties of the data. Another class of tests uses information about whether an observation is above or below some fixed value such as the median, and a third class is based on the frequency of the occurrence of runs in the data. (From McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed, p1284; Corsini, Concise Encyclopedia of Psychology, 1987, p764-5)
  • Protéine Adaptatrice : A NOD signaling adaptor protein that contains two C-terminal leucine-rich domains which recognize bacterial PEPTIDOGLYCAN. It signals via an N-terminal capase recruitment domain that interacts with other CARD SIGNALING ADAPTOR PROTEINS such as RIP SERINE-THEONINE KINASES. The protein plays a role in the host defense response by signaling the activation of CASPASES and the MAP KINASE SIGNALING SYSTEM. Mutations of the gene encoding the nucleotide oligomerization domain 2 protein have been associated with increased susceptibility to CROHN DISEASE.
  • Slovakia
  • Thailand
  • Techniques Typage Bactérien: Procédures permettant d'identifier les types et les souches d'une bactérie. Les plus fréquemment employées sont le typage bactériophage et le sérotypage aussi bien que le biotypage ou le typage à l'aide de la bactériocine.
  • Perte Hétérozygotie: The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal hemizygosity. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted. When this occurs at a tumor suppressor gene locus where one of the alleles is already abnormal, it can result in neoplastic transformation (CELL TRANSFORMATION, NEOPLASTIC).
  • HapMap Project
  • Techniques Génétiques: Chromosomal, biochemical, intracellular, and other methods used in the study of genetics.
  • Transcription Génétique: The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
  • Stade Cancer: Méthodes ayant pour but d'énoncer, en termes reproductibles, l'extension de la tumeur chez le patient. Ne pas confondre avec la "classification" qui correspond au degré de malignité.
  • Chromatographie Liquide Haute Pression: Techniques de chromatographie liquide basée sur des pressions d'injection élevées, une sensibilité élevée, et une grande vitesse.
  • African Continental Ancestry Group
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22
  • Transfection: The uptake of naked or purified DNA by CELLS, usually meaning the process as it occurs in eukaryotic cells. It is analogous to bacterial transformation (TRANSFORMATION, BACTERIAL) and both are routinely employed in GENE TRANSFER TECHNIQUES.
  • Far East
  • Famille: Groupe social constitué des parents ou des parents de substitution, et des enfants.
  • Génomique: Etude systématique des séquences complètes d'ADN (G
  • France
  • Adn Protozoaire: Deoxyribonucleic acid that makes up the genetic material of protozoa.
  • Demography
  • Low Density Lipoprotein Receptor-Related Protein-5
  • Séquençage Par Oligonucléotides En Batterie: Hybridization of a nucleic acid sample to a very large set of oligonucleotide probes, which are attached to a solid support, to determine sequence or to detect variations in a gene sequence or expression or for gene mapping.
  • Elisa: Immunoanalyse utilisant un anticorps marqué avec un marqueur enzymatique tel que la peroxydase du raifort. Pendant que, soit l'enzyme soit l'anticorps est lié à un substrat immunoabsorbant, ils gardent tous les deux leur activité biologique; le changement de l'activité enzymatique du fait de la réaction enzyme-anticorps-antigène est proportionnel à la concentration de l'antigène et peut être mesuré par spectrophotométrie ou à l'oeil nu. Beaucoup de variations de la méthode ont été développées.
  • Glutamine: A non-essential amino acid present abundantly throughout the body and is involved in many metabolic processes. It is synthesized from GLUTAMIC ACID and AMMONIA. It is the principal carrier of NITROGEN in the body and is an important energy source for many cells.
  • Slovenia
  • Leucine: An essential branched-chain amino acid important for hemoglobin formation.
  • Canal Membranaire: Gated, ion-selective glycoproteins that traverse membranes. The stimulus for channel gating can be a membrane potential, drug, transmitter, cytoplasmic messenger, or a mechanical deformation. Ion channels which are integral parts of ionotropic neurotransmitter receptors are not included.
  • Transcription Factor 7-Like 2 Protein
  • Caractère Quantitatif Héréditaire: A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)
  • Multifactor Dimensionality Reduction
  • Chile
  • Apolipoprotéines A: Lipoprotéines présentes dans le sérum du sang humain au niveau de la fraction des lipoprotéines à haute densité et très haute densité (HDL ; VLDL). Elles sont constituées de différents polypeptides, les plus importants sont l'apolipoprotéine A-I et A-II. Elles maintiennent l'intégrité structurale des particules HDL et sont des activateurs de la lécithine cholestérol acyltransférase. Les patients athéroscléreux ont de faibles taux d'apolipoprotéines A et ces même lipoprotéines sont absentes ou présentes à des concentrations extrêmement basses dans la maladie de Tanger.
  • 5-Lipoxygenase-Activating Proteins
  • Europe
  • Pubmed: Base de données bibliographique qui inclut MEDLINE en tant que son sous-ensemble primmaire (et principal). Elle est produite par le Centre National pour l'Information de Biotechnologie (NCBI pour l'acronyme en anglais), une partie de la Bibliothèque Nationale de Médecine des Etats-Unis (NLM pour l'acronyme en anglais). PubMed est accessible à travers du site Web de NLM. PubMed inclutégalement l'accès à des citations additionnelles à partir de journaux choisis des sciences de la vie qui ne sont pas inclus pas dans MEDLINE. PubMed inclut aussi des liens à d'autres ressources, telles que le texte intégral des articles à partir des sites Web des éditeurs, des bases de données moléculaires de la NCMBI, et PubMed Central. URL : http://www.pubmed.gov/
  • : A highly-sensitive (in the picomolar range, which is 10,000-fold more sensitive than conventional electrophoresis) and efficient technique that allows separation of PROTEINS; NUCLEIC ACIDS; and CARBOHYDRATES. (Segen, Dictionary of Modern Medicine, 1992)
  • Sondes Adn: Species- or subspecies-specific DNA (including COMPLEMENTARY DNA; conserved genes, whole chromosomes, or whole genomes) used in hybridization studies in order to identify microorganisms, to measure DNA-DNA homologies, to group subspecies, etc. The DNA probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the DNA probe include the radioisotope labels 32P and 125I and the chemical label biotin. The use of DNA probes provides a specific, sensitive, rapid, and inexpensive replacement for cell culture techniques for diagnosing infections.
  • Valeur Prédictive Tests: In screening and diagnostic tests, the probability that a person with a positive test is a true positive (i.e., has the disease), is referred to as the predictive value of a positive test; whereas, the predictive value of a negative test is the probability that the person with a negative test does not have the disease. Predictive value is related to the sensitivity and specificity of the test.
  • Exposition Professionnelle: The exposure to potentially harmful chemical, physical, or biological agents that occurs as a result of one's occupation.
  • Dna Restriction Enzymes: Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1.
  • Bases De Données, Acides Nucléiques: Bases de données contenant des informations sur les acides nucléiques tels que les séquences de bases, la conformation des acides nucléiques ; et d'autres propriétés. Des informationssur les fragments d'ADN conservés dans une bibliothèques de gènes ou dans unebibliothèque génomique sont souvent maintenues dans des bases de données d'ADN.
  • Valine: Acide aminé essentiel à chaîne ramifiée qui a une activité stimulante. Il favorise la croissance musculaire et la réparation tissulaire.
  • Mutation Lignée Germinale: Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes) are transmitted to progeny while those in somatic cells are not.
  • Transporteurs De La Dopamine: Sodium chloride-dependent neurotransmitter symporters located primarily on the PLASMA MEMBRANE of dopaminergic neurons. They remove DOPAMINE from the EXTRACELLULAR SPACE by high affinity reuptake into PRESYNAPTIC TERMINALS and are the target of DOPAMINE UPTAKE INHIBITORS.
  • Analyse Par Hétéroduplex: A method of detecting gene mutation by mixing PCR-amplified mutant and wild-type DNA followed by denaturation and reannealing. The resultant products are resolved by gel electrophoresis, with single base substitutions detectable under optimal electrophoretic conditions and gel formulations. Large base pair mismatches may also be analyzed by using electron microscopy to visualize heteroduplex regions.
  • Nutrigenomics
  • HLA-G Antigens
  • Receptors, Leptin
  • Région Flanquante 5': The region of DNA which borders the 5' end of a transcription unit and where a variety of regulatory sequences are located.
  • Immunoconjugués: Combinations of diagnostic or therapeutic substances linked with specific immune substances such as IMMUNOGLOBULINS; MONOCLONAL ANTIBODIES; or ANTIGENS. Often the diagnostic or therapeutic substance is a radionuclide. These conjugates are useful tools for specific targeting of DRUGS and RADIOISOTOPES in the CHEMOTHERAPY and RADIOIMMUNOTHERAPY of certain cancers.
  • Maladie Chronique: Diseases which have one or more of the following characteristics: they are permanent, leave residual disability, are caused by nonreversible pathological alteration, require special training of the patient for rehabilitation, or may be expected to require a long period of supervision, observation, or care. (Dictionary of Health Services Management, 2d ed)
  • Argentina
  • Séquences Régulatrices Acide Nucléique: Nucleic acid sequences involved in regulating the expression of genes.
  • Relation Dose-Effet Médicaments: The relationship between the dose of an administered drug and the response of the organism to the drug.
  • Analyse D'Aggrégats: Ensemble de méthodes statistiques employées pour grouper des variables ou des observations dans les sous-groupes fortement en corrélation. En épidémiologie, il peut être employé pour analyser des séries d'événements étroitement liés ou de cas de maladie ou de tout autre phénomène relatif à la santé avec les modèles bien définis de distribution par rapport au temps ou au lieu ou au deux ensemble.
  • Géographie: Science traitant de la Terre et de sa vie, particulièrement la description de la Terre, mer, et air et la distribution de la vie chez la plante et chez l'animal y compris l'humanité et les industries humaines en référence aux relations mutuelles de ces éléments. (de Webster, 3d ED)
  • Bioinformatique: A field of biology concerned with the development of techniques for the collection and manipulation of biological data, and the use of such data to make biological discoveries or predictions. This field encompasses all computational methods and theories applicable to MOLECULAR BIOLOGY and areas of computer-based techniques for solving biological problems including manipulation of models and datasets.
  • Suicide: The act of killing oneself.
  • DNA-Cytosine Methylases
  • Gène Réponse Immunitaire: Loci génétiques dans le complexe majeur d'histocompatibilité des vertébrés codant pour des produits polymorphes qui commandent la réaction immunitaire aux antigènes spécifiques. Les gènes sont trouvés dans la région HLA-D chez l'homme et dans la région I chez les souris.
  • Postménopause: The physiological period following the MENOPAUSE, the permanent cessation of the menstrual life.
  • Kaplan-Meier Estimate
  • Reproductibilité Des Résultats: The statistical reproducibility of measurements (often in a clinical context), including the testing of instrumentation or techniques to obtain reproducible results. The concept includes reproducibility of physiological measurements, which may be used to develop rules to assess probability or prognosis, or response to a stimulus; reproducibility of occurrence of a condition; and reproducibility of experimental results.
  • Apolipoprotéine E2: One of three major isoforms of apolipoprotein E. In humans, Apo E2 differs from APOLIPOPROTEIN E3 at one residue 158 where arginine is replaced by cysteine (R158--C). In contrast to Apo E3, Apo E2 displays extremely low binding affinity for LDL receptors (RECEPTORS, LDL) which mediate the internalization and catabolism of lipoprotein particles in liver cells. ApoE2 allelic homozygosity is associated with HYPERLIPOPROTEINEMIA TYPE III.
  • Probabilité: The study of chance processes or the relative frequency characterizing a chance process.
  • Gène Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
  • Colombia
  • Logiciel: Sequential operating instructions for a particular problem or function to be run on a digital computer.
  • Africa
  • Deoxyribonuclease Hindiii: One of the Type II site-specific deoxyribonucleases (EC 3.1.21.4). It recognizes and cleaves the sequence A/AGCTT at the slash. HindIII is from Haemophilus influenzae R(d). Numerous isoschizomers have been identified. EC 3.1.21.-.
  • Consommation D'Alcool: Behaviors associated with the ingesting of alcoholic beverages, including social drinking.
  • Régions Non Traduites: The parts of the messenger RNA sequence that do not code for product, i.e. the 5' UNTRANSLATED REGIONS and 3' UNTRANSLATED REGIONS.
  • : A process whereby multiple RNA transcripts are generated from a single gene. Alternative splicing involves the splicing together of other possible sets of EXONS during the processing of some, but not all, transcripts of the gene. Thus a particular exon may be connected to any one of several alternative exons to form a mature RNA. The alternative forms of mature MESSENGER RNA produce PROTEIN ISOFORMS in which one part of the isoforms is common while the other parts are different.
  • Chromosomes Humains De La Paire 16: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
  • Sous-Unité P40 De L'Interleukine-12: A cytokine subunit that is a component of both interleukin-12 and interleukin-23. It binds to the INTERLEUKIN-12 SUBUNIT P35 via a disulfide bond to form interleukin-12 and to INTERLEUKIN-23 SUBUNIT P19 to form interleukin-23.
  • Meta-Analysis as Topic
  • Environnement: The external elements and conditions which surround, influence, and affect the life and development of an organism or population.
  • Multiplex Polymerase Chain Reaction
  • Disease Resistance
  • Statistics as Topic
  • Analyse Survie: Classe de procédures statistiques pour estimer la fonction de survie (fonction du temps, commençant par une population en vie à 100% à un moment donné et fournissant toujours le pourcentage en vie de la population aux heures suivantes). L'analyse de survie est alors employée pour faire des études des effets des traitements, des facteurs pronostiques, des expositions, et d'autres covariables sur la fonction.
  • Gènes: Specific sequences of nucleotides along a molecule of DNA (or, in the case of some viruses, RNA) which represent functional units of HEREDITY. Most eukaryotic genes contain a set of coding regions (EXONS) that are spliced together in the transcript, after removal of intervening sequence (INTRONS) and are therefore labeled split genes.
  • Régime Alimentaire: Habitude de vie liée au choix de la nourriture et de la boisson, adoptée par une personne ou un animal. Ceci n'inclut pas la diétothérapie, qui correspond à la prescription d'un régime diététique dans le cadre du traitement d'une maladie.

    Attention : les différents régimes alimentaires sont classés sous diétothérapie

  • Glycoprotéines: Conjugated protein-carbohydrate compounds including mucins, mucoid, and amyloid glycoproteins.
  • Récepteur Alpha Aux Oestrogènes: One of the ESTROGEN RECEPTORS that has marked affinity for ESTRADIOL. Its expression and function differs from, and in some ways opposes, ESTROGEN RECEPTOR BETA.
  • Modèle Cox: Statistical models used in survival analysis that assert that the effect of the study factors on the hazard rate in the study population is multiplicative and does not change over time.
  • : Studies in which variables relating to an individual or group of individuals are assessed over a period of time.
  • Algorithme: Procédé consistant à une suite ordonnée de formules algébriques et/ou d'étapes logiques pour calculer ou déterminer une tâche donnée.
  • Adn Tumoral: ADN présent dans le tissu néo-plastique
  • Régulation Expression Génique Tumorale: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in neoplastic tissue.
  • Siblings
  • Cellules Cancéreuses En Culture: Cells grown in vitro from neoplastic tissue. If they can be established as a TUMOR CELL LINE, they can be propagated in cell culture indefinitely.
  • Mutation Décalage Cadre Lecture: http://www.orpha.net/gor/cgi-bin//OGmain.php?Lng=FR&Typ=Ident&Val=254.0
  • Projet Pilote: Small-scale tests of methods and procedures to be used on a larger scale if the pilot study demonstrates that these methods and procedures can work.
  • Malaysia
  • Acide Aspartique: Un des acides aminés non essentiels retrouvé généralement sous la forme L. On le trouve chez les animaux et les plantes, particulièrement dans la canne à sucre et betteraves. Ce peut être une neurotransmetteur
  • Transplantation Rénale: The transference of a kidney from one human or animal to another.
  • Pénétrance: The percent frequency with which a dominant or homozygous recessive gene or gene combination manifests itself in the phenotype of the carriers. (From Glossary of Genetics, 5th ed)
  • Méthylation Adn: Addition of methyl groups to DNA. DNA methyltransferases (DNA methylases) perform this reaction using S-ADENOSYLMETHIONINE as the methyl group donor.
  • Hélicase: Proteins that catalyze the unwinding of duplex DNA during replication by binding cooperatively to single-stranded regions of DNA or to short regions of duplex DNA that are undergoing transient opening. In addition DNA helicases are DNA-dependent ATPases that harness the free energy of ATP hydrolysis to translocate of DNA strands.
  • Sweden
  • Lésions De L'Adn: Injuries to DNA that introduce deviations from its normal, intact structure and which may, if left unrepaired, result in a MUTATION or a block of DNA REPLICATION. These deviations may be caused by physical or chemical agents and occur by natural or unnatural, introduced circumstances. They include the introduction of illegitimate bases during replication or by deamination or other modification of bases; the loss of a base from the DNA backbone leaving an abasic site; single-strand breaks; double strand breaks; and intrastrand (PYRIMIDINE DIMERS) or interstrand crosslinking. Damage can often be repaired (DNA REPAIR). If the damage is extensive, it can induce APOPTOSIS.
  • GPI-Linked Proteins
  • Cytochrome P-450 Cyp1A1: A liver microsomal cytochrome P-450 monooxygenase capable of biotransforming xenobiotics such as polycyclic hydrocarbons and halogenated aromatic hydrocarbons into carcinogenic or mutagenic compounds. They have been found in mammals and fish. This enzyme, encoded by CYP1A1 gene, can be measured by using ethoxyresorufin as a substrate for the ethoxyresorufin O-deethylase activity.
  • Homologie Séquentielle Acides Aminés: The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.
  • Analyse Mobilité : An electrophoretic technique for assaying the binding of one compound to another. Typically one compound is labeled to follow its mobility during electrophoresis. If the labeled compound is bound by the other compound, then the mobility of the labeled compound through the electrophoretic medium will be retarded.
  • Génome: The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.
  • Régulation Expression Génique Enzymologique: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in enzyme synthesis.
  • Récidive: Le retour d'un signe, d'un symptôme ou d'une maladie après une phase de rémission.
  • Receptors, Purinergic P2X7
  • Sondes Oligonucléotides: Synthetic or natural oligonucleotides used in hybridization studies in order to identify and study specific nucleic acid fragments, e.g., DNA segments near or within a specific gene locus or gene. The probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the probe include the radioisotope labels 32P and 125I and the chemical label biotin.
  • Maladie Aiguë: Disease having a short and relatively severe course.
  • Récepteur At2 De L'Angiotensine: Un sous-type de récepteur à l'angiotensine. Beaucoup d'effets liés au récepteur de l'angiotensine de type 2 tels que la VASODILATION et la perte de sodium sont à l'opposé de ceux liés au récepteur d'angiotensine de type 1.
  • HLA-DQ alpha-Chains
  • Acide Glutamique: Acide aminé non essentiel retrouvé sous la forme L. L'acide glutamique est le neurotransmetteur inducteur le plus courant du système nerveux central.
  • Clonage Moléculaire: Insertion de molécules d'ADN recombinant procaryote et/ou eucaryote dans un vecteur de réplication, tel qu'un vecteur plasmidique ou viral, et introduction des molécules hybrides résultantes dans les cellules réceptrices sans changer la viabilité de ces cellules.
  • CLOCK Proteins
  • Site Fixation: The reactive parts of a macromolecule that directly participate in its specific combination with another molecule.
  • Effet Fondateur: A phenomenon that is observed when a small subgroup of a larger POPULATION establishes itself as a separate and isolated entity. The subgroup's GENE POOL carries only a fraction of the genetic diversity of the parental population resulting in an increased frequency of certain diseases in the subgroup, especially those diseases known to be autosomal recessive.
  • Récepteur De Type Toll-4: A pattern recognition receptor that interacts with LYMPHOCYTE ANTIGEN 96 and LIPOPOLYSACCHARIDES. It mediates cellular responses to GRAM-NEGATIVE BACTERIA.
  • Asia
  • Transmission Génétique Multifactorielle: A phenotypic outcome (physical characteristic or disease predisposition) that is determined by more than one gene. Polygenic refers to those determined by many genes, while oligogenic refers to those determined by a few genes.
  • Recombinaison Génétique: Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
  • Chromosome Y Humain: The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.
  • Adn Bactérien: Acide désoxyribonucléique qui compose le matériel génétique des bactéries.
  • Morocco
  • Denmark
  • Sicily
  • Modèle Statistique: Statistical formulations or analyses which, when applied to data and found to fit the data, are then used to verify the assumptions and parameters used in the analysis. Examples of statistical models are the linear model, binomial model, polynomial model, two-parameter model, etc.
  • Macedonia (Republic)
  • Modèle Moléculaire: Models used experimentally or theoretically to study molecular shape, electronic properties, or interactions; includes analogous molecules, computer-generated graphics, and mechanical structures.
  • Marqueur Biologique: Measurable and quantifiable biological parameters (e.g., specific enzyme concentration, specific hormone concentration, specific gene phenotype distribution in a population, presence of biological substances) which serve as indices for health- and physiology-related assessments, such as disease risk, psychiatric disorders, environmental exposure and its effects, disease diagnosis, metabolic processes, substance abuse, pregnancy, cell line development, epidemiologic studies, etc.
  • Pression Sanguine: PRESSURE of the BLOOD on the ARTERIES and other BLOOD VESSELS.
  • Adn Mitochondrial: ADN bicaténaire des mitochondries. Chez les eucaryotes, le génome mitochondriale est circulaire et code pour l'ARNs ribosomal, l'ARNs de transfert, et environ 10 protéines.
  • Gène Récessif: Genes that influence the PHENOTYPE only in the homozygous state.
  • Température De Transition: The temperature at which a substance changes from one state or conformation of matter to another.
  • Russia
  • Survival Rate
  • Syria
  • Siberia
  • Modes D'Hérédité: The different ways GENES and their ALLELES interact during the transmission of genetic traits that effect the outcome of GENE EXPRESSION.
  • Modèle Biologique: Theoretical representations that simulate the behavior or activity of biological processes or diseases. For disease models in living animals, DISEASE MODELS, ANIMAL is available. Biological models include the use of mathematical equations, computers, and other electronic equipment.
  • Récepteur Adrénergique Bêta-3: A subclass of beta-adrenergic receptors (RECEPTORS, ADRENERGIC, BETA). beta-3 Adrenergic receptors are the predominant beta-adrenergic receptor type expressed in white and brown ADIPOCYTES and are involved in modulating ENERGY METABOLISM and THERMOGENESIS.
  • Détermination Séquence: Processus à plusieurs étapes qui inclut la détermination d'une séquence (protéine, glucide, etc.), sa fragmentation et son analyse, et l'interprétation des informations apportées par la séquence.
  • Gènes Indicateurs: Genes whose expression is easily detectable and therefore used to study promoter activity at many positions in a target genome. In recombinant DNA technology, these genes may be attached to a promoter region of interest.
  • HLA-B51 Antigen
  • : An electrochemical process in which macromolecules or colloidal particles with a net electric charge migrate in a solution under the influence of an electric current.
  • DNA Copy Number Variations
  • Czechoslovakia
  • : Electrophoresis in which a second perpendicular electrophoretic transport is performed on the separate components resulting from the first electrophoresis. This technique is usually performed on polyacrylamide gels.
  • : Procédures normalisées utilisant des échelles d'évaluation ou des programmes d'entretiens effectués par le personnel de santé dans le but d'évaluer le degré de maladie mentale.
  • Cocancérogénèse: Combinaison de deux ou plusieurs facteurs différents pour la génèse d'un cancer.
  • Protéines Mitochondriales: Proteins encoded by the mitochondrial genome or proteins encoded by the nuclear genome that are imported to and resident in the MITOCHONDRIA.
  • Ordre Des Gènes: The sequential location of genes on a chromosome.
  • Séquence Conservée: A sequence of amino acids in a polypeptide or of nucleotides in DNA or RNA that is similar across multiple species. A known set of conserved sequences is represented by a CONSENSUS SEQUENCE. AMINO ACID MOTIFS are often composed of conserved sequences.
  • ATP Binding Cassette Transporter 1
  • Techniques Amplification Acides Nucléiques: Laboratory techniques that involve the in-vitro synthesis of many copies of DNA or RNA from one original template.
  • Patrimoine Génétique: The total genetic information possessed by the reproductive members of a POPULATION of sexually reproducing organisms.
  • Biotransformation: The chemical alteration of an exogenous substance by or in a biological system. The alteration may inactivate the compound or it may result in the production of an active metabolite of an inactive parent compound. The alterations may be divided into METABOLIC DETOXICATION, PHASE I and METABOLIC DETOXICATION, PHASE II.
  • Lod Score: The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."
  • Facteurs De Transcription: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
  • Glycoprotéines Membranaires: Glycoproteins found on the membrane or surface of cells.
  • Lignée Cellulaire Tumorale: A cell line derived from cultured tumor cells.
  • Résistance Aux Médicaments: Diminished or failed response of an organism, disease or tissue to the intended effectiveness of a chemical or drug. It should be differentiated from DRUG TOLERANCE which is the progressive diminution of the susceptibility of a human or animal to the effects of a drug, as a result of continued administration.
  • Récepteurs De Type Toll: A family of pattern recognition receptors characterized by an extracellular leucine-rich domain and a cytoplasmic domain that share homology with the INTERLEUKIN 1 RECEPTOR and the DROSOPHILA toll protein. Following pathogen recognition, toll-like receptors recruit and activate a variety of SIGNAL TRANSDUCING ADAPTOR PROTEINS.
  • Tibet
  • Mongolia
  • Tentative De Suicide: The unsuccessful attempt to kill oneself.
  • Sérine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
  • Récepteur Au Facteur De Nécrose Tumorale De Type Ii: A tumor necrosis factor receptor subtype that is expressed primarily in IMMUNE SYSTEM cells. It has specificity for membrane-bound form of TUMOR NECROSIS FACTORS and mediates intracellular-signaling through TNF RECEPTOR ASSOCIATED FACTORS.
  • Gène Réponse Immunitaire: Loci génétiques dans le complexe majeur d'histocompatibilité des vertébrés codant pour des produits polymorphes qui commandent la réaction immunitaire aux antigènes spécifiques. Les gènes sont trouvés dans la région HLA-D chez l'homme et dans la région I chez les souris.
  • Surface Sous La Courbe: Méthode statistique de résumer l
  • Bulgaria
  • Netherlands
  • Southern-Blot: A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.
  • Arylsulfotransferase: A sulfotransferase that catalyzes the sulfation of a phenol in the presence of 3'-phosphoadenylylsulfate as sulfate donor to yield an aryl sulfate and adenosine 3',5'-bisphosphate. A number of aromatic compounds can act as acceptors; however, organic hydroxylamines are not substrates. Sulfate conjugation by this enzyme is a major pathway for the biotransformation of phenolic and catechol drugs as well as neurotransmitters. EC 2.8.2.1.
  • Immunogénétique: A subdiscipline of genetics which deals with the genetic basis of the immune response (IMMUNITY).
  • Codon Non-Sens: A codon that has been converted to the same sequence as a stop codon (CODON, TERMINATOR) by a nonsense mutation. It is different from a stop codon in that it occurs abnormally and causes premature termination of protein translation resulting in the production of truncated proteins which may be non-functional.
  • Site-Specific Dna-Methyltransferase (Adenine-Specific): An enzyme responsible for producing a species-characteristic methylation pattern on adenine residues in a specific short base sequence in the host cell DNA. The enzyme catalyzes the methylation of DNA adenine in the presence of S-adenosyl-L-methionine to form DNA containing 6-methylaminopurine and S-adenosyl-L-homocysteine. EC 2.1.1.72.
  • Paternité: Establishing the father relationship of a man and a child.
  • Région Flanquante 3': The region of DNA which borders the 3' end of a transcription unit and where a variety of regulatory sequences are located.
  • Romania
  • Mutagénèse Ponctuelle Dirigée: Genetically engineered MUTAGENESIS at a specific site in the DNA molecule that introduces a base substitution, or an insertion or deletion.
  • Protéines Membranaires: Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.
  • Système Majeur Histocompatibilité: The genetic region which contains the loci of genes which determine the structure of the serologically defined (SD) and lymphocyte-defined (LD) TRANSPLANTATION ANTIGENS, genes which control the structure of the IMMUNE RESPONSE-ASSOCIATED ANTIGENS, HUMAN; the IMMUNE RESPONSE GENES which control the ability of an animal to respond immunologically to antigenic stimuli, and genes which determine the structure and/or level of the first four components of complement.
  • Analyse Expression Gène: The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.
  • Apoprotéine A: A large and highly glycosylated protein constituent of LIPOPROTEIN (A). It has very little affinity for lipids but forms disulfide-linkage to APOLIPOPROTEIN B100. Apoprotein(a) has SERINE PROTEINASE activity and can be of varying sizes from 400- to 800-kDa. It is homologous to PLASMINOGEN and is known to modulate THROMBOSIS and FIBRINOLYSIS.
  • Cadre Lecture Ouvert: A sequence of successive nucleotide triplets that are read as CODONS specifying AMINO ACIDS and begin with an INITIATOR CODON and end with a stop codon (CODON, TERMINATOR).
  • Apolipoprotéine E3: A 34-kDa glycosylated protein. A major and most common isoform of apolipoprotein E. Therefore, it is also known as apolipoprotein E (ApoE). In human, Apo E3 is a 299-amino acid protein with a cysteine at the 112 and an arginine at the 158 position. It is involved with the transport of TRIGLYCERIDES; PHOSPHOLIPIDS; CHOLESTEROL; and CHOLESTERYL ESTERS in and out of the cells.
  • HLA-DP beta-Chains
  • Arylamine N-Acetyltransferase: An enzyme that catalyzes the transfer of acetyl groups from ACETYL-COA to arylamines. It can also catalyze acetyl transfer between arylamines without COENZYME A and has a wide specificity for aromatic amines, including SEROTONIN. However, arylamine N-acetyltransferase should not be confused with the enzyme ARYLALKYLAMINE N-ACETYLTRANSFERASE which is also referred to as SEROTONIN ACETYLTRANSFERASE.
  • Récepteurs Aux Antigènes Des Cellules B: IMMUNOGLOBULINS on the surface of B-LYMPHOCYTES. Their MESSENGER RNA contains an EXON with a membrane spanning sequence, producing immunoglobulins in the form of type I transmembrane proteins as opposed to secreted immunoglobulins (ANTIBODIES) which do not contain the membrane spanning segment.
  • Détoxication Métabolique Des Médicaments: Reduction of pharmacologic activity or toxicity of a drug or other foreign substance by a living system, usually by enzymatic action. It includes those metabolic transformations that make the substance more soluble for faster renal excretion.
  • Questionnaire: Predetermined sets of questions used to collect data - clinical data, social status, occupational group, etc. The term is often applied to a self-completed survey instrument.
  • Immunogenetic Phenomena
  • Algeria
  • Exposition Environnement: The exposure to potentially harmful chemical, physical, or biological agents in the environment or to environmental factors that may include ionizing radiation, pathogenic organisms, or toxic chemicals.
  • Fonctions De Probabilité: Fonctions construites à partir d'un modèle statistique et d'un ensemble de données observées qui donnent une probabilité des données pour différentes valeurs des paramètres d'un modèle inconnu. Ces valeurs paramètriques qui maximisent la probabilité sont les évaluations maximales de vraisemblance des paramètres.
  • Chromosomes Humains De La Paire 12: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
  • Pan Troglodytes: The common chimpanzee, a species of the genus Pan, family HOMINIDAE. It lives in Africa, primarily in the tropical rainforests. There are a number of recognized subspecies.
  • Spectrométrie De Masse Maldi: A mass spectrometric technique that is used for the analysis of large biomolecules. Analyte molecules are embedded in an excess matrix of small organic molecules that show a high resonant absorption at the laser wavelength used. The matrix absorbs the laser energy, thus inducing a soft disintegration of the sample-matrix mixture into free (gas phase) matrix and analyte molecules and molecular ions. In general, only molecular ions of the analyte molecules are produced, and almost no fragmentation occurs. This makes the method well suited for molecular weight determinations and mixture analysis.
  • Singapore
  • Chromosomes Humains De La Paire 19: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
  • Tests Neuropsychologiques: Tests designed to assess neurological function associated with certain behaviors. They are used in diagnosing brain dysfunction or damage and central nervous system disorders or injury.
  • Taq Polymerase: A heat stable DNA-DIRECTED DNA POLYMERASE from the bacteria Thermus aquaticus. It is widely used for the amplification of genes through the process of POLYMERASE CHAIN REACTION. EC 2.7.7.-.
  • Immunohistochimie: Histochemical localization of immunoreactive substances using labeled antibodies as reagents.
  • Cellules Cos: CELL LINES derived from the CV-1 cell line by transformation with a replication origin defective mutant of SV40 VIRUS, which codes for wild type large T antigen (ANTIGENS, POLYOMAVIRUS TRANSFORMING). They are used for transfection and cloning. (The CV-1 cell line was derived from the kidney of an adult male African green monkey (CERCOPITHECUS AETHIOPS).)
  • Amplification Génique: A selective increase in the number of copies of a gene coding for a specific protein without a proportional increase in other genes. It occurs naturally via the excision of a copy of the repeating sequence from the chromosome and its extrachromosomal replication in a plasmid, or via the production of an RNA transcript of the entire repeating sequence of ribosomal RNA followed by the reverse transcription of the molecule to produce an additional copy of the original DNA sequence. Laboratory techniques have been introduced for inducing disproportional replication by unequal crossing over, uptake of DNA from lysed cells, or generation of extrachromosomal sequences from rolling circle replication.
  • Protéines Recombinaison: Proteins prepared by recombinant DNA technology.
  • Africa, Northern
  • Sous-Unité Alpha Du Récepteur : A receptor subunit that is a component of the TYPE I INTERLEUKIN-4 RECEPTOR and the TYPE II INTERLEUKIN-4 RECEPTOR. It signals through interaction of its cytoplasmic domain with JANUS KINASES such as JANUS KINASE 1.
  • Composants Géniques: The parts of the gene sequence that carry out the different functions of the GENES.
  • Protéines Fixant Adn: Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
  • Gènes Des Protozoaires: The functional hereditary units of PROTOZOA.
  • Rémission: Period after successful treatment in which there is no appearance of the symptoms or effects of the disease.
  • Isoenzymes: Une des formes structurellement apparentées d
  • Enhancer Elements, Genetic
  • Mediterranean Region
  • Syndrome: symptôme complexe d'étiologie inconnue, caractéristique d'une anomalie particulière.
  • Chromosomes Humains De La Paire 10: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
  • Déséquilibre Allélique: Situation où une partie (allèle) d'un gène est perdue (perte d'hétérozygosité) ou amplifiée.
  • Glycoprotéine P: A 170-kDa transmembrane glycoprotein from the superfamily of ATP-BINDING CASSETTE TRANSPORTERS. It serves as an ATP-dependent efflux pump for a variety of chemicals, including many ANTINEOPLASTIC AGENTS. Overexpression of this glycoprotein is associated with multidrug resistance (see DRUG RESISTANCE, MULTIPLE).
  • African Americans
  • Amplification Aléatoire Adn: Technique that utilizes low-stringency polymerase chain reaction (PCR) amplification with single primers of arbitrary sequence to generate strain-specific arrays of anonymous DNA fragments. RAPD technique may be used to determine taxonomic identity, assess kinship relationships, analyze mixed genome samples, and create specific probes.
  • Steroid 16-Alpha-Hydroxylase: A liver microsomal cytochrome P450 enzyme that catalyzes the 16-alpha-hydroxylation of a broad spectrum of steroids, fatty acids, and xenobiotics in the presence of molecular oxygen and NADPH-FERRIHEMOPROTEIN REDUCTASE. This enzyme is encoded by a number of genes from several CYP2 subfamilies.
  • Helicobacter Pylori: Bactérie de forme spiralée ou incurvée, gram-négatif, micro-aérobie, pathogène de la muqueuse gastrique, (isolée en 1982 de patients Australiens, porteurs de lésions gastriques ou de maladies ulcéreuses). Ces bactéries sont uréase positive. Elles ont d'abord été classées dans le genre CAMPYLOBACTER puis après séquençage et étude de leur profil biochimique incluses dans le genre HELICOBACTER. (see Int J Syst Bacteriol 1989 Oct;39(4):297-405).
  • Newfoundland and Labrador
  • Protéines De Liaison Aux Acides Gras: Intracellular proteins that reversibly bind hydrophobic ligands including: saturated and unsaturated FATTY ACIDS; EICOSANOIDS; and RETINOIDS. They are considered a highly conserved and ubiquitously expressed family of proteins that may play a role in the metabolism of LIPIDS.
  • Densité Osseuse: quantité de minéral par centimètre carré d'os. C'est la définition utilisée dans la pratique clinique. La densité réelle d'os serait exprimée en grammes par millilitre. Elle est le plus fréquemment mesurée par absorptiométrie photonique ou tomodensitométrie.
  • Tests De Personnalité: Standardized objective tests designed to facilitate the evaluation of personality.
  • Asparagine: A non-essential amino acid that is involved in the metabolic control of cell functions in nerve and brain tissue. It is biosynthesized from ASPARTIC ACID and AMMONIA by asparagine synthetase. (From Concise Encyclopedia Biochemistry and Molecular Biology, 3rd ed)
  • Stress Oxydatif: A disturbance in the prooxidant-antioxidant balance in favor of the former, leading to potential damage. Indicators of oxidative stress include damaged DNA bases, protein oxidation products, and lipid peroxidation products (Sies, Oxidative Stress, 1991, pxv-xvi).
  • Chromosome X Humain: Chromosome sexuel humain féminin existant dans tous les gamètes féminins et seulement dans la moitié des gamètes masculins.
  • Health
  • Chromosomes Humains De La Paire 1: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
  • Transporteurs De La Norépinéphrine: Sodium chloride-dependent neurotransmitter symporters located primarily on the PLASMA MEMBRANE of noradrenergic neurons. They remove NOREPINEPHRINE from the EXTRACELLULAR SPACE by high affinity reuptake into PRESYNAPTIC TERMINALS. It regulates signal amplitude and duration at noradrenergic synapses and is the target of ADRENERGIC UPTAKE INHIBITORS.
  • Reproduction Sélective: The production of offspring by selective mating or HYBRIDIZATION, GENETIC in animals or plants.
  • Austria
  • Sudan
  • Leucocytes: White blood cells. These include granular leukocytes (BASOPHILS; EOSINOPHILS; and NEUTROPHILS) as well as non-granular leukocytes (LYMPHOCYTES and MONOCYTES).
  • Protéines Gène Suppresseur Tumeur: Proteins that are normally involved in holding cellular growth in check. Deficiencies or abnormalities in these proteins may lead to unregulated cell growth and tumor development.
  • Neuroleptiques: Substances qui contrôlent un comportement psychotique agité, soulagent les états psychotiques sévères et exercent un effet apaisant. Elles sont utilisées pour la schizophrénie, la démence sénile, les psychoses temporaires qui suivent une opération chirurgicale, un infarctus du myocarde, etc... On nomme fréquemment ces médicaments, neuroleptiques, en référence à leur tendance à provoquer des effets secondaires neurologiques, bien que tous les antipsychotiques ne soient pas susceptibles de produire de tels effets. Nombre de ces médicaments sont aussi efficaces contre la nausée, les vomissements et le prurit.
  • Bovins: Bovins domestiques, habituellement gardés à la ferme ou dans un ranch, utlisés pour la production de viande ou de produits laitiers, ou encore pour les travaux difficiles.
  • Cholestenone 5 Alpha-Reductase: An oxidoreductase that catalyzes the conversion of compounds that contain 5-alpha-cholestan-3-one into the cholest-4-en-3-one derivative. It plays an important role in the conversion of TESTOSTERONE into DIHYDROTESTOSTERONE and PROGESTERONE into DIHYDROPROGESTERONE.
  • Préménopause: The period before MENOPAUSE. In premenopausal women, the climacteric transition from full sexual maturity to cessation of ovarian cycle takes place between the age of late thirty and early fifty.
  • Fluorouracile: A pyrimidine analog that is an antineoplastic antimetabolite. It interferes with DNA synthesis by blocking the THYMIDYLATE SYNTHETASE conversion of deoxyuridylic acid to thymidylic acid.
  • Dérive Génétique: The fluctuation of the ALLELE FREQUENCY from one generation to the next.
  • Biological Evolution
  • Flux De Gènes: The change in gene frequency in a population due to migration of gametes or individuals (ANIMAL MIGRATION) across population barriers. In contrast, in GENETIC DRIFT the cause of gene frequency changes are not a result of population or gamete movement.
  • Gène Brca1: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human chromosome 17 at locus 17q21. Mutations of this gene are associated with the formation of familial breast and ovarian cancer. It encodes a large, nuclear protein that is a component of DNA repair pathways.
  • Cinétique: L'étude des temps de réaction dans les systèmes chimiques ou physiques.
  • : A test to determine the ability of an individual to maintain HOMEOSTASIS of BLOOD GLUCOSE. It includes measuring blood glucose levels in a fasting state, and at prescribed intervals before and after oral glucose intake (75 or 100 g) or intravenous infusion (0.5 g/kg).
  • alpha-2-HS-Glycoprotein
  • Gènes Bactériens: The functional hereditary units of BACTERIA.
  • Appariement Bases: Pairing of purine and pyrimidine bases by hydrogen bonding in double-stranded DNA or RNA.
  • Chromosomes Humains De La Paire 17: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
  • Costa Rica
  • Génome Bactérien: The genetic complement of a BACTERIA as represented in its DNA.
  • : Partial cDNA (DNA, COMPLEMENTARY) sequences that are unique to the cDNAs from which they were derived.
  • Period Circadian Proteins
  • Aberrations Chromosomiques: nombre incorrect ou structure anormale des chromosomes. Beaucoup d'aberrations chromosomiques, mais pas toutes, sont la cause des anomalies chromosomiques.
  • Conformation Acide Nucléique: La disposition spatiale des atomes d'un acide nucléique ou polynucléique qui a pour effet sa forme tri-dimensionnelle caractéristique.
  • Great Britain
  • Chromosomes Humains De La Paire 15: Paire de chromosomes humains appartenant au groupe D de la classification des chromosomes humains.
  • Adn Intergénique: Tout fragment d'ADN présent entre des séquences codantes d'ADN, y compris les régions non traduites, les 5'et les 3' régions flanquantes, les INTRONS, les pseudogenes non fonctionnels, et les séquences répétées non fonctionnelles. Cet ADN peut ou peut ne pas contenir des séquences régulatrices
  • Chromosomes Humains De La Paire 12: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
  • Cartographie Physique Des Chromosomes: Mapping of the linear order of genes on a chromosome with units indicating their distances by using methods other than genetic recombination. These methods include nucleotide sequencing, overlapping deletions in polytene chromosomes, and electron micrography of heteroduplex DNA. (From King & Stansfield, A Dictionary of Genetics, 5th ed)
  • Duplication Génique: Changement structurel chromosomique ayant pour résultat le doublement d'une portion du génome des prokaryotes et des eukaryotes. La taille du segment reproduit peut varier considérablement. Les duplications peuvent être interchromosomales, avec le segment dupliqué incorporé à un autre chromosome, ou intrachromosomales, avec la région dupliquée présente dans le même chromosome. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)
  • Rats: The common name for the genus Rattus.
  • Anthropométrie: Technique qui concerne la mesure de la taille, du poids, et des proportions de l'Homme ou de tout autre corps de primate.
  • Délétion Chromosomique: Perte réelle d'une partie de chromosome.
  • Cystéine: A thiol-containing non-essential amino acid that is oxidized to form CYSTINE.
  • Antinéoplasiques: Substances qui inhibent ou préviennent le developpement de cancers.
  • Conformation Protéine: The characteristic 3-dimensional shape of a protein, including the secondary, supersecondary (motifs), tertiary (domains) and quaternary structure of the peptide chain. PROTEIN STRUCTURE, QUATERNARY describes the conformation assumed by multimeric proteins (aggregates of more than one polypeptide chain).
  • Antiviraux: Agents utilisés lors d'une prophylaxie ou d'un traitement d'une maladie virale. Les antiviraux peuvent agir en inhibant la synthése des acides nucléiques (ADN Polymérase), en se liant aux récepteurs membranaires, en inhibant la pénétration, la décapsidation ou plus tardivement l'assemblage et la libération des virions.
  • Simulation Ordinateur: Computer-based representation of physical systems and phenomena such as chemical processes.
  • Mères: Female parents, human or animal.
  • Kuwait
  • Age Distribution
  • Tryptophane: Acide aminé essentiel nécessaire au développement normal des nourrissons et pour l'équilibre de l'AZOTE chez les adultes. Précurseur des ALCALOÏDES DERIVES DE SECOLOGANINE ET TRYPTAMINE dans les plantes. Précurseur de la SEROTONINE (d'où son utilisation comme antidépresseur et somnifère). Peut être un précurseur de l'ACIDE NICOTINIQUE, bien qu'inefficace, chez les mammifères.
  • Protéines De Transport: Transport proteins that carry specific substances in the blood or across cell membranes.
  • Séquences Alu: The Alu sequence family (named for the restriction endonuclease cleavage enzyme Alu I) is the most highly repeated interspersed repeat element in humans (over a million copies). It is derived from the 7SL RNA component of the SIGNAL RECOGNITION PARTICLE and contains an RNA polymerase III promoter. Transposition of this element into coding and regulatory regions of genes is responsible for many heritable diseases.
  • Lymphocytes: White blood cells formed in the body's lymphoid tissue. The nucleus is round or ovoid with coarse, irregularly clumped chromatin while the cytoplasm is typically pale blue with azurophilic (if any) granules. Most lymphocytes can be classified as either T or B (with subpopulations of each); those with characteristics of neither major class are called null cells.
  • Hybridation Acide Nucléique: Technique largement répandue qui utilise la capacité des séquences complémentaires des ADN ou ARN simple-brin à s'appareiller l'une avec l'autre pour former une double hélice. L'hybridation peut avoir lieu entre deux séquences complémentaires d'ADN, entre un ADN simple-brin et un ARN complémentaire, ou entre deux séquences d'ARN. La technique est employée pour détecter et isoler des séquences spécifiques, pour mesurer l'homologie de séquence, ou pour définir d'autres caractéristiques d'un ou des deux brins. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503; Dorlands, 28th ed, p781)
  • Structure Tertiaire Protéine: The level of protein structure in which combinations of secondary protein structures (alpha helices, beta sheets, loop regions, and motifs) pack together to form folded shapes called domains. Disulfide bridges between cysteines in two different parts of the polypeptide chain along with other interactions between the chains play a role in the formation and stabilization of tertiary structure. Small proteins usually consist of only one domain but larger proteins may contain a number of domains connected by segments of polypeptide chain which lack regular secondary structure.
  • Australia
  • Isoformes Protéines: Différentes formes d'une protéine qui peuvent être produites par différents gènes ou bien par un même gène par épissage alternatif.
  • Population Groups
  • Liaison : The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments.
  • Interprétation Statistique Données: Application de procédures statistiques pour analyser des faits spécifiques, observés ou supposés, d'une étude en particulier.
  • Insulin Receptor Substrate Proteins
  • Absorptiométrie Photonique: méthode non invasive pour mesurer et quantifier le minéral osseux. Particulièrement employée pour le diagnostic d'ostéoporose et aussi pour mesurer la minéralisation osseuse des enfants en bas âge.
  • NAV1.5 Voltage-Gated Sodium Channel
  • Vigueur Hybride: The adaptive superiority of the heterozygous GENOTYPE with respect to one or more characters in comparison with the corresponding HOMOZYGOTE.
  • Coronarographie: Radiographie du système vasculaire du muscle cardiaque après injection d'une substance de contraste.
  • Homogreffe: Transplantation between individuals of the same species. Usually refers to genetically disparate individuals in contradistinction to isogeneic transplantation for genetically identical individuals.


Plus d'information


  • CISMeF - Catalogue et Index des Sites Médicaux Francophones.
  • OMS - Organisation Mondiale de la Santé.

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Dernière mise à jour: Avril 2009
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