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Some single nucleotide polymorphisms of MSY2 gene might contribute to susceptibility to spermatogenic impairment in idiopathic infertile men.

机译:MSY2基因的某些单核苷酸多态性可能有助于特发性不育男性对生精功能障碍的易感性。

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OBJECTIVES: To explore the possible association of the MSY2 gene with idiopathic male infertility in humans. METHODS: Mutation screening was performed in 326 patients with azoospermia or severe oligospermia and 210 controls by denaturing high-performance liquid chromatography and DNA sequencing. The differences in genotype and allele distribution in the two groups were evaluated. The Haploview program, version 4.0, was used to perform linkage disequilibrium and haplotype analysis. RESULTS: A total of eight variations, including five single nucleotide polymorphisms and three rare single nucleotide changes, were identified. The frequencies of allele C of c.187T>C and allele G of c.1095+16A>G were significantly greater in the controls than in the patients, and both seemed to play a protective role against spermatogenic impairment. The haplotype GTCTA, consisting of the five single nucleotide polymorphisms, might be a genetic risk factor for development of male infertility. CONCLUSIONS: The results of our study suggest that some polymorphisms of the MSY2 gene might be associated with impaired spermatogenesis and that the gene could also be involved in modifying the susceptibility to idiopathic spermatogenic impairment in humans.
机译:目的:探讨MSY2基因与人类特发性男性不育的可能关系。方法:采用高效液相色谱法和DNA测序法对326例无精子症或严重少精症患者和210例对照者进行突变筛查。评价两组的基因型和等位基因分布的差异。 Haploview程序版本4.0用于执行连锁不平衡和单倍型分析。结果:共鉴定出八个变异,包括五个单核苷酸多态性和三个罕见的单核苷酸变化。在对照组中,c.187T> C等位基因C的频率和c.1095 + 16A> G等位基因G的频率均显着高于患者,并且似乎都对生精功能受损起到了保护作用。由五个单核苷酸多态性组成的单倍型GTCTA可能是男性不育发展的遗传危险因素。结论:我们的研究结果表明,MSY2基因的某些多态性可能与精子发生受损有关,并且该基因也可能与改变人类对特发性生精障碍的易感性有关。

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