严重少精子症和无精子症中Y染色体基因微缺失检测分析

目的:利用Y染色体基因微缺失的检测来明确少精子症、无精子症患者病因。方法:采用多重聚合酶链反应技术,针对31例严重少精子症、9例无精症患者与对照组41例已正常生育的男性,进行AZFa、AZFb、AZFc、3个区域共12个序列标签位点(STS)的微缺失分析。结果;严重少精子症31例中发现Y染色体微缺失6例,无精子症9例中发现Y染色体微缺失3例。而正常对照组41例均未发现Y染色体微缺失。其缺失形式有两种,分别是AZFa+AZFb+AZFc区的全缺失和AZFc区的单独缺失。结论:Y染色体微缺失检测是一种很有价值的诊断方法。

Analysis of Y chromosome microdeletion method for idiopathicmale infertility

Objective： To evaluate the microdeletion of Y chromosome diagnostic method in idiopathic infertile men with azoospermia,severe idiopathic oligozoospermia in Wuxi. Methods.. A total of 40 patients including 9 idiopathic azoospermia,31 severe idiopathic oligozoospermia, and 41 healthy male controls were studied. With multiplex PCR technique,an analysis of 12 sequence tag sites （STS）in AZFa,AZFb and AZFc microdeletion was performed. Results： Y chromosome microdeletion was observed in 6 of the 31 males with severe oligozoospermia, and 3 of the 9 males with azoospermia. No such deletion was observed in 41 normal fertile men. The 2 patterns of microdeletionm were identified including AZFa ＋ AZFb ＋ AZFc and AZFc Y chromosome microdeletion . Conclusion： Y chromosome microdeletion is an valuable diagnostic method for male infertility of idiopathic azoospermia,severe idiopathic oligozoospermia.