小额外标记染色体与不育的研究进展（英文）

Small supernumerary marker chromosomes detected in connection with infertility

不育受年龄、激素水平、病毒感染、免疫、遗传、手术创伤以及配子异常等因素影响。回顾文献发现,染色体畸变与不育密切相关。不育患者小额外标记染色体(sSMC)的携带率约是正常人群的3倍。根据sSMC数据库(http://ssmc-tl.com/Start.html)收录,已有225个病例研究发现sSMC主要来源于15号或14号染色体。不育患者的sSMC中,53%是通过遗传获得,且更倾向于来自母亲。同时,sSMC的遗传有一定的性别差异,携带有sSMC的母亲更倾向于遗传给儿子,反之,携带有sSMC父亲更倾向于遗传给女儿。少弱畸精子症患者携带的sSMC多数来源于近端着丝粒染色体,而反复自然流产夫妇携带的sSMC大多来自非近端着丝粒染色体。本文全面综述目前sSMC与不育相关性研究,有助于理解遗传异常在不育发生过程中的作用。

Infertility is known to be associated with chromosomal aberrations. Here the author reviews hitherto yet published ea- ses of infertility identified to be carriers of small supernumerary marker chromosomes （sSMC）. According to the sSMC web page （ht- tp：//ssmc-tl, corn/Start, html） there are now 225 cases of sSMC detected and characterized for their chromosomal origin and genetic content in infertile but otherwise clinically healthy persons. In 54% of the cases, sSMC originated from chromosome 15 or 14, and wasparentally transmitted in over 50% of the infertile sSMC-carriers. To the best of the authors knowledge, this is the largest review of in- fertile sSMC-carriers ever done. Natl J Androl, 2014, 20 （9） ： 771 -780