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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 detect Y chromosome microdeletions of a pair of father and son to explore the vertical transmission of this genetic defect. Methods Fetal Y chromosome microdeletion was detected by multiplex PCR amplification and electrophoresis. His father showed primary infertility and severe oligospermia. One son was born through intracytoplasmic sperm injection. The son Y chromosome microdeletion Detection using PCR fluorescence probe method. Results Y chromosome microdeletions were detected in both father and son, and all had the same deletion sites, but no SY254 and SY255. Conclusion Y chromosome microdeletions can achieve the vertical transmission between father and son through assisted reproductive technology.