Reprogenetics, Livingston, NJ 07039, USA.
Asian J Androl. 2012 Jan;14(1):32-9. doi: 10.1038/aja.2011.66. Epub 2011 Nov 28.
Infertility in humans is surprisingly common occurring in approximately 15% of the population wishing to start a family. Despite this, the molecular and genetic factors underlying the cause of infertility remain largely undiscovered. Nevertheless, more and more genetic factors associated with infertility are being identified. This review will focus on our current understanding of the chromosomal basis of male infertility specifically: chromosomal aneuploidy, structural and numerical karyotype abnormalities and Y chromosomal microdeletions. Chromosomal aneuploidy is the leading cause of pregnancy loss and developmental disabilities in humans. Aneuploidy is predominantly maternal in origin, but concerns have been raised regarding the safety of intracytoplasmic sperm injection as infertile men have significantly higher levels of sperm aneuploidy compared to their fertile counterparts. Males with numerical or structural karyotype abnormalities are also at an increased risk of producing aneuploid sperm. Our current understanding of how sperm aneuploidy translates to embryo aneuploidy will be reviewed, as well as the application of preimplantation genetic diagnosis (PGD) in such cases. Clinical recommendations where possible will be made, as well as discussion of the use of emerging array technology in PGD and its potential applications in male infertility.
人类不孕不育的现象非常普遍，约有 15%的有生育需求的人群受到影响。尽管如此，导致不孕不育的分子和遗传因素在很大程度上仍未被发现。然而，越来越多与不孕不育相关的遗传因素被发现。这篇综述将重点介绍我们目前对男性不孕不育的染色体基础的理解，特别是：染色体非整倍体、结构和数量染色体异常以及 Y 染色体微缺失。染色体非整倍体是导致人类妊娠丢失和发育障碍的主要原因。非整倍体主要来源于母体，但人们对胞浆内精子注射的安全性提出了担忧，因为与正常生育能力的男性相比，不孕男性的精子非整倍体水平明显更高。具有数量或结构染色体异常的男性产生非整倍体精子的风险也会增加。我们将回顾精子非整倍体如何转化为胚胎非整倍体，以及在这种情况下应用植入前遗传学诊断 (PGD)。将尽可能提出临床建议，并讨论在 PGD 中应用新兴的微阵列技术及其在男性不孕不育中的潜在应用。
