Jatta, Francis
(2020)
HFE gene polymorphisms in Malays.
Masters thesis, Universiti Sains Malaysia.
Abstract
Variations in haemochromatosis gene (HFE) have been reported to inhibit the
role of hepcidin, resulting in an autosomal genetic disorder called hereditary
haemochromatosis (HH). These genetic variations include C282Y, H63D, and S65C
which have been largely studied in Europeans and none for the Malaysian population.
The aim of this study is to evaluate variations within the HFE gene in Malays. A total
of 35 blood samples were collected and genotyped for C282Y, H63D, and S65C using
polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
The findings of the study showed that the frequency distribution of heterozygous
H63D (5.71%) was twice higher than those heterozygous for S65C (2.86%). However,
no Malay individuals were homozygous or heterozygous for C282Y. Therefore, risk
for HH in Malays is low as compared with Europeans which have high frequencies of
C282Y, H63D, and S65C alleles and genotypes. Future study should include other
population groups in Malaysia for better elucidation of population structure and risk
for developing HH in the country.
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