Document Detail


Frequency of HFE gene mutations C282Y and H63D in Bosnia and Herzegovina.
MedLine Citation:
PMID:  17058523     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Genetic epidemiology studies of hereditary hemochromatosis (HHC) have shown a high prevalence of the C282Y mutation in individuals of the North Western European origin, whereas lower prevalence of HFE gene mutations was detected in the populations from southern European countries. However, no HFE mutation prevalence data have been provided for the population of Bosnia-Herzegovina so far. Therefore, the aim of this study was to determine the frequency of the C282Y and H63D HFE gene mutations in the population of Bosnia-Herzegovina. Among 200 analysed subjects 8 (4%) were C282Y heterozygotes; no C282Y homozygotes were found. The frequency of the H63D allele was 11.5%. There were 33 (16.5%) heterozygotes and 6 (3%) homozygotes for the H63D mutation. One (0.5%) compound heterozygote C282Y/H63D was identified. The observed C282Y and H63D allele frequency was 2.25% (95% confidence interval: 1.2-4.2) and 11.5% (95% confidence interval: 8.7-14.9), respectively. The prevalence of the C282Y and H63D mutations was estimated in Bosnia-Herzegovina, which fit well in the European northwest-to-southeast gradient of the C282Y mutation distribution. In addition, these results have an important implication for clinical evaluation of HHC in Bosnia-Herzegovina.
Authors:
Rifet Terzić; Amela Sehić; Natasa Teran; Ibrahim Terzić; Borut Peterlin
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Collegium antropologicum     Volume:  30     ISSN:  0350-6134     ISO Abbreviation:  Coll Antropol     Publication Date:  2006 Sep 
Date Detail:
Created Date:  2006-10-23     Completed Date:  2006-11-02     Revised Date:  2009-02-04    
Medline Journal Info:
Nlm Unique ID:  8003354     Medline TA:  Coll Antropol     Country:  Croatia    
Other Details:
Languages:  eng     Pagination:  555-7     Citation Subset:  IM    
Affiliation:
Department of Biology and Human Genetics, Medical School Tuzla, Tuzla, Bosnia and Herzegovina.
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MeSH Terms
Descriptor/Qualifier:
Bosnia-Herzegovina
Female
Genetics, Population / methods*
Genotype
Hemochromatosis / genetics*
Histocompatibility Antigens Class I / genetics
Humans
Male
Membrane Proteins / genetics
Mutation
Chemical
Reg. No./Substance:
0/HFE protein, human; 0/Histocompatibility Antigens Class I; 0/Membrane Proteins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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