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男性不育的孟德尔遗传学。

Mendelian genetics of male infertility.

机构信息

Scott Department of Urology, Baylor College of Medicine, Houston, TX, USA.

出版信息

Ann N Y Acad Sci. 2010 Dec;1214:E1-E17. doi: 10.1111/j.1749-6632.2010.05917.x.

Abstract

Infertility is defined as the inability of a couple to conceive despite trying for a year, and it affects approximately 15% of the reproductive-age population. It is considered a genetically lethal factor, as the family lineage stops at that individual with no progeny produced. A genetic defect associated with an infertile individual cannot be transmitted to the offspring, ensuring the maintenance of reproductive fitness of the species. However, with the advent of assisted reproductive techniques (ART), we are now able to overcome sterility and bypass nature's protective mechanisms that developed through evolution to prevent fertilization by defective or deficient sperm.

摘要

不孕不育定义为夫妻双方在尝试怀孕一年后仍无法受孕,约影响 15%的育龄人群。它被认为是一种遗传致死因素,因为家族血脉在该个体处终止,没有后代产生。与不孕个体相关的遗传缺陷不会传递给后代,从而确保了物种生殖适应性的维持。然而,随着辅助生殖技术(ART)的出现,我们现在能够克服不育症,并绕过自然进化过程中为防止缺陷或不足精子受精而发展起来的保护机制。

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