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The association of four SNPs in DNA mismatch repair genes with idiopathic male infertility in northwest China

机译:西北特发性男性不孕症中DNA失配基因的四种SNPS

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摘要

Abstract DNA mismatch repair (MMR) plays a critical role in the maintenance of genetic integrity. The failure of MMR in sperm DNA was found in male infertility. However, its aetiology in idiopathic male infertility (IMI) remains unknown. The present study was to investigate whether the four SNPs (rs26279 in MSH3 , rs1800734 and rs4647269 in MLH1 and rs175080 in MLH3 ) in MMR genes were associated with IMI or not. The interactions of the SNPs were also performed to clarify its genetic aetiology. In the present study, 209 clinically diagnosed IMI men and 201 fertile men were recruited. Four SNPs were genotyped by DNA sequencing. It was the first time to investigate the association between rs26279 in MSH3 and IMI. The genotype frequency distribution of rs26279 (AG) in MSH3 was found to be significantly different between IMI and control ( p ??0.05), as well as azoospermia. The rs1800734 and rs4647269 in MLH1 were found to be significantly different between severe oligozoospermia and control groups ( p ??0.05). However, rs175080 in MLH3 was not significantly different between IMI and control ( p ??0.05). Multifactor dimensionality reduction (MDR) for detecting interactions showed that there were no interactions among the four SNPs on IMI.
机译:摘要DNA不匹配修复(MMR)在维持遗传完整性方面发挥着关键作用。在男性不孕症中发现了MMR在精子DNA中的失败。然而,其在特发性男性不孕症(IMI)中的病因仍然未知。本研究是研究MMR基因中的四个SNP(MLH3,RS1800734和RS4647269中的MLH1和RS175080中的rs4647269中的rs4647269中是否与IMI或不相关。还进行了SNP的相互作用以阐明其遗传性病学。在本研究中,招募了209名临床诊断的IMI男性和201肥感。通过DNA测序进行四个SNP。这是第一次调查MSH3和IMI之间的RS26279之间的关联。发现MSH3中的RS26279(A> G)的基因型频率分布在IMI和对照(P≤0.05)之间具有显着差异,以及脂肪植物。发现MLH1的RS1800734和RS4647269在严重的寡核糖药和对照组之间有显着差异(p≤≤0.05)。然而,IMI和对照之间的MLH3中的RS175080没有显着差异(P?& 0.05)。用于检测相互作用的多因素维度减少(MDR)显示,IMI上的四个SNP中没有相互作用。

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