男性不育患者Y染色体AZF区微缺失分析

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。

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

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.