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不育男性中铁代谢紊乱基因突变C282Y和H63D的分析

Analysis of the hemochromatosis mutations C282Y and H63D in infertile men.

作者信息

Peterlin Borut, Kunej Tanja, Hruskovicová Helena, Ferk Polonca, Gersak Ksenija, Zorn Branko

机构信息

Division of Medical Genetics, University Medical Center, Ljubljana, Slovenia.

出版信息

Fertil Steril. 2006 Dec;86(6):1796-8. doi: 10.1016/j.fertnstert.2006.05.034. Epub 2006 Oct 24.

DOI:10.1016/j.fertnstert.2006.05.034
PMID:17067586
Abstract

The aim of this study was to find out whether C282Y and H63D mutations in the hemochromatosis (HFE) gene are associated with male infertility and whether the prevalence of the HFE mutations is higher in a group of 262 infertile men in comparison to 200 fertile men. Because the C282Y and H63D HFE gene distributions in infertile men were not significantly different from fertile controls, our data suggest that the C282Y and H63D HFE gene mutations are not risk factors for male infertility and are not associated with clinical manifestations of male infertility.

摘要

本研究的目的是查明血色素沉着症(HFE)基因中的C282Y和H63D突变是否与男性不育相关,以及在一组262名不育男性中HFE突变的患病率是否高于200名可育男性。由于不育男性中C282Y和H63D HFE基因分布与可育对照无显著差异,我们的数据表明C282Y和H63D HFE基因突变不是男性不育的危险因素,也与男性不育的临床表现无关。

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