618例不育男性的AZF基因微缺失分析

Study on the microdeletion of AZF gene in 618 infertile males

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 investigate the correlation of AZF microdeletions with male infertility. Methods： Fifteen sites of AZF genes were detected by multiplex polymerase chain reaction （PCR） in 618 infertile males. Results： We found 23 patients with Y chromosome microdelctions, accounting for 3.72% of the tested group, which were 16 cases of AZFc deletions, 3 cases of AZFb ＋c part/all deletions, 3 cases of AZFa part deletions and 1 case of deletions of all 15 test sites in AZFa, AZFb, AZFc and AZFd. AZFc deletion patients included 13 cases of moderate to severe oligozoospcrmia and 3 cases of azoospcrmia： AZFb＋c part/ all deletion patients included 1 case of severe asthenospermia and oligospermia, 2 cases of azoospcrmia; AZFa deletion patients and the patient with deletions of 15 sites were all cases of azoospcrmia. Conclusion： AZF gent deletion is an important cause of male infertility, thus the test could provide evidence for the diagnosis, treatment and genetic counseling of the infertile patients.