The Genetics of Infertility: Current Status of the Field.
The Genetics of Infertility: Current Status of the Field.
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不育的遗传学：该领域的当前状态。
DOI：
10.1007/s40142-013-0027-1
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发表时间：
2013-12-01
影响因子：
2.1
通讯作者：
Yatsenko AN
中科院分区：
文献类型：
--
作者：
Zorrilla M;Yatsenko AN
不孕症是一种相对常见的健康状况，影响了近7%的夫妇。临床上，它是一种高度异质性的病理学，具有复杂的病因学，包括环境和遗传因素。据估计，近50%的不孕症病例是由于遗传缺陷。数以百计的动物基因敲除模型研究令人信服地表明，不育症是由基因缺陷引起的，无论是单个还是多个。然而，尽管做出了巨大努力，但将基础研究成果转化为临床研究的进展一直具有挑战性。对于绝大多数男性或女性不育患者来说，遗传原因仍然无法解释。一个特别的困难是需要研究的候选基因数量巨大;仅在睾丸中就有2,300多个基因表达，其中数百个基因影响人类的生殖功能，并可能导致男性不育。目前，只有少数基因或遗传缺陷已被证明会导致原发性不孕症或与原发性不孕症密切相关。然而，随着人类基因组的完成和个性化医疗的进展，情况正在迅速改变。事实上，平均每年有10-15个新的基因检测被添加到临床基因检测列表中。
Infertility is a relatively common health condition, affecting nearly 7% of all couples. Clinically, it is a highly heterogeneous pathology with a complex etiology that includes environmental and genetic factors. It has been estimated that nearly 50% of infertility cases are due to genetic defects. Hundreds of studies with animal knockout models convincingly showed infertility to be caused by gene defects, single or multiple. However, despite enormous efforts, progress in translating basic research findings into clinical studies has been challenging. The genetic causes remain unexplained for the vast majority of male or female infertility patients. A particular difficulty is the huge number of candidate genes to be studied; there are more than 2,300 genes expressed in the testis alone, and hundreds of those genes influence reproductive function in humans and could contribute to male infertility. At present, there are only a handful of genes or genetic defects that have been shown to cause, or to be strongly associated with, primary infertility. Yet, with completion of the human genome and progress in personalized medicine, the situation is rapidly changing. Indeed, there are 10-15 new gene tests, on average, being added to the clinical genetic testing list annually.