FREQUENCY OF THREE HEMOCHROMATOSIS GENE MUTATIONS IN ANTALYA, TURKEY
Oztürk S, Lüleci G, Keser I*
*Corresponding Author: Associate Professor Dr. Ibrahim Keser, Department of Medical Genetics, School of Medicine, Akdeniz University, 07070 Antalya, Turkey; Tel.: +90-242-249-6000, Ext: 6973; Fax: +90-242-227-4484; Mobile Tel.:+90-532-788-7644; E-mail: keser@akdeniz.edu.tr
page: 25

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.

Key words: Hereditary hemochromatosis, Hemochroomatosis gene (HFE), C282Y, S65C, H63D, Antalya




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