<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml"><p>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.</p></abstract>

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.

Frequency of Three Hemochromatosis Gene Mutations in Antalya, Turkey

Department of Medical Genetics, School of Medicine, Akdeniz University, 07070 Antalya, Turkey

Balkan Journal of Medical Genetics

{"article-title":"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...

Frequency of Three Hemochromatosis Gene Mutations in Antalya, Turkey

Published Online: Oct 10, 2007

Page range: 25 - 28

DOI: https://doi.org/10.2478/v10034-007-0004-7

Keywords
Hereditary hemochromatosis, Hemochromatosis gene (HFE), C282Y, S65C, H63D, Antalya

This content is open access.

Frequency of Three Hemochromatosis Gene Mutations in Antalya, Turkey

Published Online: Oct 10, 2007

Page range: 25 - 28

DOI: https://doi.org/10.2478/v10034-007-0004-7

KeywordsHereditary hemochromatosis, Hemochromatosis gene (HFE), C282Y, S65C, H63D, Antalya

This content is open access.

Keywords
Hereditary hemochromatosis, Hemochromatosis gene (HFE), C282Y, S65C, H63D, Antalya