中国南方地区不育男性Y染色体AZF区域微缺失分析

摘要

Objective To detect and analyze the microdeletions of Y chromosome Azoospermia factor (AZF) region in infertile males in South China. Methods A total of 1 152 infertile males with azoospermia and oligo-zoospermia from Reproductive Medicine Center of the Affiliated Hospital of Hainan Medical University were enrolled and tested for microdeletions of AZFa, AZFb, AZFc and AZFd regions in Y chromosome. Eighteen sets of STS primers were selected and divided to four groups for multiplex polymerase chain reaction (PCR) to determine Y-chromosome microdeletions. Blank controls and positive controls (healthy male's DNA) were included in every PCR experiment. Results Among the 1 152 patients, 67 (5.8%) were found at least one microdeletion in AZF regions, including 13 cas-es of azoospermia, 1 case of asthenozoospermia, 7 cases of oligozoospermia and 46 cases of severe oligozoospermia. Sixty patients had deletions in two AZF regions:AZFc combined with AZFd or AZFb combined with AZFd. One patient had deletions in three AZF regions:AZFc combined with AZFb and AZFd. The rates of deletions were 1.49%(1/67) for AZFa, 4.48%(3/67) for AZFb, 92.54%(62/67) for AZFc, and 95.52%(64/67) for AZFd. Conclusion Multiplex PCR is a fast, simple and convenient way to analyze Y chromosome microdeletions, which could help us to understand the real cause of male infertility and provide advice for choosing ART strategy.%目的：检测并分析中国南方地区不育男性Y染色体上无精症因子(Azoospermia factor，AZF)区域的微缺失情况。方法运用多重PCR技术选用18个STS位点分为四组，设置空白对照，并采用正常男性DNA标本为阳性对照，筛查在海南医学院附属医院生殖医学中心就诊的1152例诊断为无精、少精及弱精男性的AZFa、AZFb、AZFc和AZFd 4个区域的微缺失情况。结果1152例男性患者中共检出67例AZF微缺失，缺失率为5.8%；其中，无精症13例，弱精症1例，少精症7例，严重少精症46例。上述患者中60例被检出AZFc合并AZFd区或AZFb合并AZFd区的双重缺失，1例被检出AZFc、AZFb合并AZFd区的三重缺失；就各区缺失率而言，AZFa为1.49%(1/67)，AZFb为4.48%(3/67)，AZFc为92.54%(62/67)，AZFd为95.52%(64/67)。结论采用多重PCR技术进行AZF微缺失检测十分简单可行，该项检测对了解男性不育发生原因、帮助临床制定辅助生殖技术方案十分必要。