中国汉族人群HFE基因(C282Y、H63D和S65C)突变分析

A Lin, W H Yan, H H Xu, M Zhu, M Y Zhou
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引用次数: 20

摘要

遗传性血色素沉着症(HH)是白人人群中最常见的常染色体隐性遗传铁代谢疾病之一,它会导致不适当的高铁吸收。C282Y、H63D和S65C是血色素沉着症基因(HFE)的三种主要错义突变。本研究对浙江省395例正常汉族人群的C282Y、H63D和S65C基因突变进行了调查。未见C282Y、S65C突变,未见H63D纯合子,H63D杂合子基因型频率为4.6%,等位基因频率为2.3%。这是第一个分析中国汉族人群HFE基因中C282Y、H63D和S65C突变流行率的报告。HFE基因突变的低发生率可能是HH在中国汉族人群中罕见的一个原因。
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Analysis of the HFE gene (C282Y, H63D and S65C) mutations in a general Chinese Han population.

Hereditary hemochromatosis (HH) is one of the most common autosomal recessive genetic disorders of iron metabolism in white populations, which leads to inappropriately high iron absorption. C282Y, H63D, and S65C are three major missense mutations of the hemochromatosis gene (HFE). In the present study, C282Y, H63D, and S65C mutations in 395 normal Chinese Han populations from Zhejiang province were investigated. No C282Y, S65C mutations, and H63D homozygote was observed, while the genotype frequency of H63D heterozygote was 4.6% and the allelic frequency 2.3% in this population. This was the first report to analyze the prevalence of C282Y, H63D, and S65C mutations in the HFE gene in a Chinese Han population. Low incidence of the HFE gene mutations could be a reason for the rarity of HH in the Chinese Han population studied.

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Tissue antigens
Tissue antigens 医学-病理学
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