title: The frequency of C282Y and H63D mutations in Hemochromatosis gene in native Estonians.
abstract: Four hundred and forty two adult individuals of Estonian nationality were examined in different regions of Estonia for the C282Y and H63D HFE mutations to determine the allele and genotype frequencies. The sample consisted only of those people whose at least four grandparents were born in Estonia, and have lived settled in the same region. The study was carried out using the PCR technique and restriction analysis for C282Y and H63D mutations respectively. For the C282Y mutation the frequency of heterozygotes was 6.6% and homozygotes 0.2%, giving allele frequency 0.035. The allele frequency for the H63D mutation was 0.136, and the frequency of homo- and hetero-zygotes 1.6% and 24.0% respectively.
authors.affiliation: Department of Human Biology and Genetics, Institute of General and Molecular Pathology, University of Tartu, Estonia. pparlist@ut.ee
authors.forename: P
authors.initials: P
authors.lastname: Pärlist
authors.forename: A V
authors.initials: AV
authors.lastname: Mikelsaar
authors.forename: G
authors.initials: G
authors.lastname: Tasa
authors.forename: L
authors.initials: L
authors.lastname: Beckman
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D001224:Aspartic Acid / Q000235:genetics*; D003545:Cysteine / Q000235:genetics*; D004252:DNA Mutational Analysis; D017931:DNA Primers; D004957:Estonia / Q000453:epidemiology / Q000208:ethnology; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006432:Hemochromatosis / Q000453:epidemiology* / Q000235:genetics*; D006639:Histidine / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D014443:Tyrosine / Q000235:genetics*
chemical_list: D017931:DNA Primers; D001224:Aspartic Acid; D014443:Tyrosine; D006639:Histidine; D003545:Cysteine