Abstract

Frequency of Three Hemochromatosis Gene Mutations in Antalya, Turkey

Hemochromatosis gene (HFE) mutations are associated with hereditary hemochromatosis. We used the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method to determine the frequency of the mutations (C282Y, S65C and H63D) of the HFE gene in DNA samples of 141 healthy Turkish adults in Antalya, Turkey. The mutant allele frequencies were 0.0, 0.0 and 0.12, respectively. The H63D mutation was found in the heterozygous state in 30 samples (21.27%) and in the homozygous state in two samples (1.41%). These results suggest that the H63D mutation may be responsible for the hereditary hemochromatosis in the Turkish population.

Details

Title
Frequency of Three Hemochromatosis Gene Mutations in Antalya, Turkey
Author
Oztürk, S; Lüleci, G; Keser, I
First page
25
Publication year
2007
Publication date
2007
Publisher
De Gruyter Poland
ISSN
13110160
e-ISSN
21995761
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
1321404076
Copyright
Copyright Versita 2007