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  1. The frequency of the haemochromatosis-associated genotype D6S265-1 : D6S105-8 in blood donors.

    Article - En anglais

    Homozygosity for HLA-A3 and the microsatellite markers D6S265 allele 1 and D6Sl05 allele 8 is associated with a high relative risk for genetic haemochromatosis-indeed we and others have suggested that a haplotype including D6S265-1.

    HLA-A3 and D6S105-8 is specific for haemochromatosis.

    To determine the frequency of this haplotype and examine its specificity for haemochromatosis we have analysed data from 7820 blood donors from South Wales.

    The frequency of homozygosity for D6S265-1, HLA-A3 and D6Sl0J5-8 was 1 in 280.

    Calculations based on the prevalence of haemochromatosis suggest that about 50% of chromosomes carrying D65265-1 : HLA-A 3 : D6Sl05-8 also carry the haemochromatosis gene.

    This information is of value for assessing the risk that the partner of a patient with haemochromatosis also carries the haemochromatosis gene.

    Mots-clés Pascal : Hémochromatose, Homme, Locus HLA-A, DNA microsatellite, Marqueur génétique, Homozygotie, Génotype, Donneur sang, Fréquence, Etude statistique, Epidémiologie, Pigment, Chromosome C6 anormal, Chromosome anormal, Aberration chromosomique, Métabolisme pathologie, Enzymopathie, Maladie héréditaire

    Mots-clés Pascal anglais : Hemochromatosis, Human, HLA-A-Locus, Microsatellite DNA, Genetic marker, Homozygozity, Genotype, Blood donor, Frequency, Statistical study, Epidemiology, Pigments, Abnormal chromosome C6, Abnormal chromosome, Chromosomal aberration, Metabolic diseases, Enzymopathy, Genetic disease

    Logo du centre Notice produite par :
    Inist-CNRS - Institut de l'Information Scientifique et Technique

    Cote : 96-0316922

    Code Inist : 002B22E03. Création : 10/04/1997.