男性不育与Y染色体微缺失的关系

目的:探讨男性不育患者的遗传学因素。方法:应用多重PCR的方法对378例男性不育患者Y染色体上的15个STS位点(包括AZFa区:SY82、SY84、SY86;AZFb区:SY124、SY127、SY128、SY133、SY134、SY143;AZFc区:SY239、SY242、SY254、SY255;AZFd区:SY145、SY152)进行检测。结果:378例男性不育患者共检出Y染色体微缺失35例,AZF区段的总缺失率为9.26%(35/378),其中无精子症患者组的AZF缺失率为13.56%(16/118),严重少弱精子症患者组的AZF缺失率为9.63%(13/135),少精子症患者组的AZF缺失率为4.80%(6/125)。结论:在引起男性不育症的原因中,Y染色体微缺失是最重要的遗传性因素之一,男性不育症患者在进行临床治疗或辅助生殖前进行AZF检测,可以减少各种不必要的治疗带来的身心健康问题。

Objective:To discuss the genetic factors of male infertility.Methods:15 Sequence-tagged-sites(including AZFa regions:SY82、SY84、SY86;AZFb regions:SY124、SY127、SY128、SY133、SY134、SY143;AZFcregions:SY239、SY242、SY254、SY255;AZFd regions:SY145、SY152)in the Y chromosome of 378 male infertility patients was tested by using Multiplex PCR Technology. Results:35 Y chromosome microdeletions were detected from 378 male infertility patients. The total AZF deletion rate was 9.26%(35/378), AZF deletion rate was respectively13.56%(16/118),9.63%(13/135)and 4.80%(6/125)from the group of azoospermatism patients, severe asthenospermia and oligospermia patients)and oligozoospermia patients. Conclusion:Y chromosome microdeletion is one of the most important genetic factors which caused male infertility. The unnecessary physical and mental problem caused by the treatment can be reduced if AZF detection proceeded before the male infertility patients’ clinic treatment or assisted reproduction.