男性不育患者Y染色体AZF区微缺失分析

Analysis on microdeletion of AZF region on Y chromosome in infertile male patients

目的:探讨Y染色体上无精子因子(AZF)微缺失与男性不育的关系。方法:应用多重PCR技术,采用AZF区9个序列标签位点(STS),对107例男性不育患者(83例无精子症和24例严重少精子症)和20例正常生育男性外周血进行微缺失分析。结果:在107例无精症和少精子症不育患者中11例AZF区域微缺失,缺失率10.3%,其中无精症组缺失率为9.6%(8/83),少精子症组缺失率为12.5%(3/24)。11例微缺失患者中,单独AZFc区缺失患者5例(45.5%),AZFc+d区缺失患者4例(36.4%),AZFb+c区、AZFb+c+d区缺失患者各1例(9.1%);位点sY254和sY255缺失患者分别为72.7%(8/11)和100%(11/11)。20例正常生育男性未检测出Y染色体微缺失。结论:Y染色体AZF微缺失是导致男性不育患者精子发生障碍的重要原因。

Objective To investigate the correlation between male infertility and Y chromosome microdeletions of azoospermia factor （AZF） regions. Methods Multiplex PCR amplification of 9 sequence-tagged sites in AZF regions of Y chromosome was examined among 107 infertile male patients with azoospermia （n=83） or oligozoospermia （n = 24） and 20 fertile men as controls . Results Among 107 patients, the rate of Y chromosomal microdeletions was 10.3% （11/107）, and the rates of azoospermia and oligozoospermia were 9.6% （8/83） and 12.5% （3/24） . Among 11 patients with microdeletions of Y chromosome, 5 patients had deletion of AZFc region alone, 4 had deletion of AZFc and AZFd regions, 1 had deletion of AZFb＋c regions , 1 had deletion of AZFb＋c＋d regions. Moreover, 8 and 11 patients had deletion of SY 254 and SY 255, respectively. No positive one was found in the controls. Conclusion Y chromosomal microdeletion is one of the major causes of severe dyszooospermia.