男性不育患者Y染色体无精子因子基因微缺失的研究

摘要

目的 探讨川南地区无精子症及严重少精子症患者Y染色体无精子因子(azoospermia factor,AZF)区微缺失的位点及其特点.方法 采用多重PCR技术对134例无精症患者、90例严重少精症患者和70名正常男性进行Y染色体AZF区18个序列标签位点(sequence tagged site,STS)的检测.结果 在224例患者中,AZF缺失率为12.1％(27/224),其中无精症患者缺失率为13.4％(18/134),严重少精症患者缺失率为10.0％(9/90).AZFc区缺失为最常见的缺失类型,占51.9％.选用18个STS位点的检出率比欧洲男科学会和欧洲分子遗传实验质控网推荐的6个STS位点提高约22.7％(5/22).正常对照组未发现Y染色体微缺失.结论 Y染色体微缺失检测对诊断男性不育具有重要价值,AZFc区是川南地区男性不育患者Y染色体微缺失的缺失热区.增加STS位点检测数在一定程度上提高缺失检测的可靠性及检出率.%Objective To investigate the location and characteristics of microdeletions of Y chromosome azoospermia factor (AZF) genes in infertile males with azoospermia and severe oligozoospermia in southern Sichuan.Methods Multiplex PCR was used to detect 18 sequence tagged sites (STS) involved in Y chromosome AZF microdeletions among 224 infertile males (including 134 azoospermia cases and 90 severe oligozoospermia cases) and 70 healthy males.Results Among the 224 infertile males,the overall frequency of microdeletions was 12.1％ (27/224),and were 13.4％ (18/134) in those with azoospermia and 10.0％ (9/90) in those with severe oligozoospermia.The most frequent microdeletions have occurred in the AZFc region (51.9％).Compared with the 6 STS loci recommended by European Academy of Andrology and European Molecular Genetics Quality Network,22.7％ more deletions were detected based on the 18 STS loci selected from the AZF region.Conclusion Identification of Y chromosome microdeletions has a significant implication on the diagnosis of male infertility.The most frequent microdeletions have occurred in the AZFc region in southern Sichuan.To use more sequence tagged sites for the screening can improve the reliability and detection rate of Y chromosome microdeletions.