Frequency of three hemochromatosis gene mutations in Antalya, Turkey


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ÖZTÜRK S., LULECI G., KESER İ.

BALKAN JOURNAL OF MEDICAL GENETICS, vol.10, no.1, pp.25-28, 2007 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 10 Issue: 1
  • Publication Date: 2007
  • Doi Number: 10.2478/v10034-007-0004-7
  • Journal Name: BALKAN JOURNAL OF MEDICAL GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.25-28
  • Keywords: hereditary hemochromatosis, hemochromatosis gene (HFE), C282Y, S65C, H63D, Antalya, HEREDITARY HEMOCHROMATOSIS, HFE GENE, IRON OVERLOAD, BLOOD-DONORS, POPULATION, S65C, PREVALENCE, C282Y, H63D, DISCOVERY
  • Akdeniz University Affiliated: Yes

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.