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Hereditary hemochromatosis: detection of C282Y and H63D mutations in HFE gene by means of guthrie cards in population of Czech Republic
Author(s) -
Cimburova Marketa,
Putova Ivana,
Provaznikova Hana,
Horak Jiri
Publication year - 2002
Publication title -
genetic epidemiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.301
H-Index - 98
eISSN - 1098-2272
pISSN - 0741-0395
DOI - 10.1002/gepi.10201
Subject(s) - hereditary hemochromatosis , genetics , czech , genotype , hemochromatosis , mutation , allele , biology , population , allele frequency , compound heterozygosity , gene mutation , gene , medicine , linguistics , philosophy , environmental health
The aim of this study was to establish the prevalence of HFE gene mutations in the population of the Czech Republic. Altogether, 257 randomly selected newborn screening cards (Guthrie cards) were analyzed for the C282Y and H63D mutations within the HFE gene. Complete results were obtained from 254 cards for the C282Y mutation and 257 cards for the H63D mutation. No sample was identified as homozygous for C282Y, and two (0.78%) were homozygous for H63D. Twenty (7.87%) samples were C282Y‐heterozygous, and 69 (26.84%) were H63D‐heterozygous. Of these, two (0.79%) carried one copy of each mutation, i.e., were compound heterozygous. Allele frequencies for C282Y and H63D were 0.039 and 0.142, respectively. The observed genotype frequencies for both C282Y and H63D mutations in the Czech Republic are in the range of values reported for other Central and Western European populations. Genet. Epidemiol. 23:260–263, 2002. © 2002 Wiley‐Liss, Inc.