突尼斯人群中血色素沉着病(HFE)基因C282Y和H63D突变的患病率

R. Sassi , Slama Hmida , H. Kaabi , A. Hajjej , A. Abid , S. Abdelkefi , S. Yacoub , M. Maamar , N. Mojaat , L. Ben Hamed , H. Bellali , A. Dridi , A. Jridi , B. Midouni , M.K. Boukef
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引用次数: 31

摘要

对北非人群HFE突变:H63D和C282Y的研究表明,C282Y突变极其罕见甚至不存在。我们通过PCR-RFLP分析检测了1140条染色体(570名突尼斯人)是否存在两种HFE突变。我们发现,H63D和C282Y的等位基因频率分别为15.17%(±2.1%)和0.09%(±0.17%)。这些结果与H63D突变的全球传播和C282Y的北欧限制一致。本研究将通过确定H63D的纯合子性状和相关危险因素(ß thalassimmia)是否会导致突尼斯的铁超载来完成。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Prevalence of C282Y and H63D mutations in the haemochromatosis (HFE) gene in Tunisian population

The studies of the HFE mutations: H63D and C282Y in North African populations have revealed the extreme rarity or even the absence of the C282Y mutation. We have examined 1140 chromosomes (570 Tunisian people) for the presence of the two HFE mutations by PCR-RFLP analysis. We have found that the allele frequencies are, respectively, 15.17% (±2.1%) for the H63D and 0.09% (±0.17%) for the C282Y. These results are consistent with the worldwide spread of the H63D mutation and the north European restriction of the C282Y. This study will be completed by determining whether homozygote trait for H63D and associated risk factors (ß thalassémia) can lead to iron overload in Tunisia.

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