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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618例男性不育患者进行Y染色体AZF基因的15个位点进行检测。结果一共检出Y染色体微缺失患者23例,占受检人群的3.72%,其中包括16例AZFc全部缺失、3例为AZFb+c部分/全部缺失、3例为AZFa部分缺失和1例AZFa、AZFb、AZFc和AZFd四个区15个检测位点全部缺失。AZFc全部缺失患者中,中度至重度少精症13例,无精症3例;AZFb部分/全部缺失患者中,严重少弱精1例,无精症2例;AZFa部分缺失患者和15个位点全部缺失患者均为无精症。结论 Y染色体AZF基因微缺失是男性不育的重要原因之一,该检测可为患者的诊断、治疗及遗传咨询提供依据。
Objective To study the relationship between Y chromosome AZF microdeletion and male infertility. Methods A total of 618 male infertility patients were detected by multiplex PCR at 15 sites of Y chromosome AZF gene. Results A total of 23 cases of Y chromosome microdeletions were detected, accounting for 3.72% of the total, including 16 cases of AZFc deletion, 3 cases of AZFb + c partial / complete deletion, 3 cases of AZFa partial deletion and 1 case of AZFa, AZFb, AZFc and AZFd four districts all 15 test sites were missing. Among AZFc-deficient patients, 13 cases were moderate to severe oligozoospermia and 3 cases were azoospermic. Among AZFb partially / completely deleted patients, 1 cases were severely weakened, 2 cases were azoospermic, 2 cases were AZFa partially deleted and 15 Patients with all missing sites were all azoospermia. Conclusions AZF gene deletion in Y chromosome is one of the important causes of male infertility. This test may provide a basis for diagnosis, treatment and genetic counseling of patients.