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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。
Objective To study the relationship between Y chromosome AZF microdeletion and male infertility. Methods A total of 718 male infertile patients were tested for 18 loci of the Y chromosome AZFa, AZFb, AZFc and AZFd by multiplex PCR. Results A total of 228 cases of idiopathic azoospermia were deleted in 4 cases, accounting for 1.7%; of the 209 cases of severe oligospermia in 17 cases, accounting for 8.1%; and the remaining 281 cases of oligozoospermia were missing , Accounting for 2.8%. Conclusion In the male infertility patients, AZF gene microdeletion of Y chromosome is one of the important causes of male infertility. Gene detection can provide theoretical basis for the diagnosis, treatment and genetic counseling of patients.