Y染色体微缺失患者通过卵胞浆内单精子注射垂直传递

The vertical transmission of Y chromosomal microdeletions from father to son through intracytoplasmic sperm injection

目的检测1对父子的Y染色体微缺失,探讨这种遗传学缺陷的垂直传递问题。方法父亲Y染色体微缺失检测采用多重PCR扩增-电泳法,父亲表现为原发性不育症、严重少精子症,通过卵胞浆内单精子注射技术,生育1儿子,儿子Y染色体微缺失检测采用PCR荧光探针法。结果父子均检测出Y染色体微缺失,且均具有相同的缺失位点,SY254、SY255缺失。结论 Y染色体微缺失可通过辅助生殖技术实现父子间的垂直传递。

Objective：To discuss the vertical transmission of Y chromosomal microdeletions between a pair of father and son. Methods：The Y chromosomal microdeletions of the severe oligozoospermic father was analyzed with multiplex PCR amplification- electrophoresis. A son was born through intracytoplasmic sperm injection. The Y chromosomal microdeletions of the son was detected by PCR fluorescence probe method. Results：The father and son had the same Y chromosomal microdeletions,including the sites of SY254 and SY255. Conclusion：Vertical transmission of Y chromosomal microdeletions from father to son can be achieved through intracytoplasmic sperm injection.