中国南方地区不育男性Y染色体AZF区域微缺失分析

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1 152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 1 152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。

Y chromosome AZF region microdeletions in infertile males in south China

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＆#39;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.