海南地区718例男性不育患者AZF基因微缺失研究

Study on the Microdeletion of AZF gene in 718 male infertility patients in Hainan

目的研究Y染色体AZF基因微缺失与男性不育的关系。方法应用多重PCR对718例男性不育患者进行Y染色体AZFa、AZFb、AZFc和AZFd基因的18个位点进行检测。结果 228例特发性无精症患者中有4例缺失,占1.7%;209例严重少精子症患者中有17例缺失,占8.1%;其余281例少弱精子症患者中有8例缺失,占2.8%。结论在男性不育症患者中,Y染色体AZF基因微缺失是男性不育发生的重要原因之一,基因检测可为患者的诊断、治疗及遗传咨询提供理论依据。

Aim To investigate the eorelation of microdeletions of AZF gene with male infertility. Methods The 18 sites of AZF genes in 718 cases were detected with multiplex polymerase chain reaction （PCR）. Results The AZF deletion rate in 228 azoospermia patients was 1.7% （4/228）;the rate of that in severe oligozoospermia patients was 8.1% （17/ 209）;that in the rest patients with asthenospermia and oligospermia was 2.8%（8/281 ）. Conclusion AZF gene deletion is one of the important cause of male infertility with azoospermia and oligospermia.