Y染色体基因微缺失与男性不育症

目的　研究特发性少精症、严重少精症、无精症患者与 Y染色体基因微缺失之间的关系。　方法　采用多重聚合酶链反应技术 ,针对 19例特发性少精症、 10例特发性严重少精症、 6例特发性无精症患者与对照组 30名已正常生育的男性 ,进行 AZFa、AZFb、AZFc、AZFd4个区域共15个序列标签位点 (sequence tag site,STS)的微缺失分析。　结果　少精症 19例中发现 Y染色体微缺失 1例 ,严重少精症 10例中发现 Y染色体微缺失 3例 ,无精症 6例和正常对照组 30例均未发现Y染色体微缺失。缺失形式有 3种 ,分别是 AZFb区的 SY12 7、 S134Y、 AZFd区的 SY15 2。　结论　精子发生障碍性不育与 Y染色体微缺失有一定关联。

The association between the Y chromosome microdeletion and male infertility

Objective To evaluate the microdeletion of Y chromosome in infertile men with idiopathic azoospermia,severe idiopathic oligozoospermia and idiopathic oligozoo spermia in Shenzhen. Methods The subjects of this study included 6 idi opathic azoospermia,10 severe idiopathic oligozoospermia,19 idiopathic oligozoospermia and 30 healthy male con trols.With multiplex PCR technique,an analysisof 15 sequence tag sites(STS) in AZFa,AZFb AZ Fc and AZFd microdeletion was performed. Results Y chromoso me microdeletion was observed in 1 of the 19 males with oligozoospermia,and in 3 of the 10 males with severe oligozoosperm ia.No such deletion was observed in 6 azoospermic males and 30 normal fertile me n.The 3 patterns of microdeletion were identified including SY127 and SY134 in A ZFb;SY152 in AZFd. Conclusion Y chromosome microdeletion might be closely rel ated to male infertility resulting from spermatogenic failure.