358例不育患者Y染色体微缺失分析

Y chromosome microdeletions analysis of 358 male infertile patients

目的研究男性不育患者中无精子症和少弱精子症Y染色体微缺失的发生率。方法采用多重PCR技术对358例无精和少弱精患者进行Y染色体AZF微缺失检测。结果 358例无精和少弱精患者中发现AZF微缺失31例,总缺失率为8.7%。无精子症64例,10例Y染色体微缺失,缺失率15.6%;少弱精子症191例,8例缺失,缺失率4.2%;严重少弱精子症103例,13例缺失,缺失率12.6%;31例AZF微缺失中有17例都是AZFc座位序列标签全部缺失+AZFd座位SY152缺失,占缺失总数的55%。结论 Y染色体AZF区域微缺失是引起男性无精子症、少精子症的重要原因之一。AZFc座位序列标签全部缺失+AZFd座位SY152缺失为严重少弱精及无精子症患者Y染色体缺失热区。

Objective：To study the incidence of Y chromosome microdeletions in male infertility due to azoospermia and oligozoospermia. Methods：358 azoospermia and oligozoospermia males were selected by multipolymerase chain reaction to detecte of AZF regions of Y chromosome microdeletion. Result：31 cases were found with azoospermia and oligozoospermia males,the proportion was 8.7%. As to the type of microdeletions in AZF and its proportion,64 cases of no sperm patients had 10 cases deletions,191 cases of oligospermia/asthenozoospermia patients had 8 cases deletions,103 cases of severe oligozoospermia or azoospermia patients had 13 cases deletions. The Y chromosome microdeletions was respectively15.6%,4.2%,15.6% in azoospermia,oligoasthenospermia and severe oligozoospermia. Among 31 cases of Y chromosome microdeletions had 17 cases were AZFc＋d regions of SY152 STS deletions,the proportion was 55%. Conclusion：The microdeletions in the AZF region of the Y chromosome is one of the major reasons to cause male infertility. The AZFc＋d regions of SY152 STS deletions was the most frequent in all type of Y chromosome microdeletions.