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[男性不育症的遗传学:新的参与者]

[Genetics of male infertility: the new players].

作者信息

Coutton Charles, Satre Véronique, Arnoult Christophe, Ray Pierre

机构信息

Équipe génétique, infertilité et thérapeutiques, laboratoire AGIM (ageing, imaging and modeling), CNRS FRE3405, La Tronche, 38700, France.

出版信息

Med Sci (Paris). 2012 May;28(5):497-502. doi: 10.1051/medsci/2012285014. Epub 2012 May 30.

Abstract

Approximately 10-15% of couples experience infertility and male factors contribute to half of these cases. It was usually thought that infertility cannot be transmitted, but accumulating evidence indicates that many cases are indeed caused by genetic defects, some inherited. The use of single nucleotide polymorphisms (SNP) arrays allowing to genotype the totality of the genome recently led to identify several genes which, when mutated, generate specific infertility phenotypes. With the tremendous progresses in high throughput sequencing techniques, we can expect many more new genes involved in fertility to be identified in the next years. For the patients concerned, these findings mean the possibility of an accurate diagnosis and improved prognosis. Furthermore, these data will lead to a better understanding of the molecular mechanisms underlying spermatogenesis and thus should contribute to identify and offer new therapeutic strategies for the treatment of infertility.

摘要

约10%-15%的夫妇患有不孕症,其中男性因素导致了一半的病例。人们通常认为不孕症不会遗传,但越来越多的证据表明,许多病例确实是由基因缺陷引起的,其中一些是遗传性的。最近,利用单核苷酸多态性(SNP)阵列对整个基因组进行基因分型,已鉴定出多个基因,这些基因发生突变时会产生特定的不育表型。随着高通量测序技术的巨大进步,我们预计在未来几年会发现更多与生育相关的新基因。对于相关患者来说,这些发现意味着有可能进行准确诊断并改善预后。此外,这些数据将有助于更好地理解精子发生的分子机制,从而有助于确定并提供治疗不孕症的新治疗策略。

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