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目的建立一套全新的基因诊断方法,检测Y染色体无精子因子(azoospermia factor,AZF)区域微缺失,并对Y染色体微缺失与男性不育相关性进行初步探讨。方法按照欧洲男科协会和欧洲分子遗传实验质控网检测指南推荐标准,采用多重PCR-液态芯片技术对648例精子发生障碍的患者和100例合格捐精者进行Y染色体微缺失筛查。结果648例精子发生障碍的患者中,发现62例患者存在Y染色体AZF区域微缺失,对应于5种缺失模式AZFa,AZFb,AZFc,AZFb+c,AZFa+b+c。按区域统计,AZFc区域缺失的频率最高,其次是AZFb,AZFa的检出率最低。无精子症患者中微缺失的发生率为12．31％,严重少精子患者中微缺失发生率为5．43％。100例对照组没有发现任何缺失,两组比较,差异显著(P<0．001)。结论男性不育与Y染色体微缺失密切相关,本研究建立的多重PCR方法-液态芯片技术平台,用于男性不育患者的YqAZF区域筛查,结果可靠、快捷、重复性好、通量高。
Objective To establish a new gene diagnosis method to detect microdeletions in the region of azoospermia factor (AZF) in Y chromosome and to investigate the relationship between Y chromosome microdeletions and male infertility. Methods According to the recommendations of the European Association of Men and Women and the European Molecular Genetic Laboratory Quality Control Network Testing Guidelines, 648 cases of sperm dysplasia and 100 cases of qualified donors were screened for Y-chromosome microdeletions by using multiplex PCR-liquid chip technique. Results Among the 648 patients with spermatogenic disorders, 62 patients were found to have microdeletions of AZF in Y chromosome, corresponding to five deletion patterns of AZFa, AZFb, AZFc, AZFb + c and AZFa + b + c. According to regional statistics, AZFc region has the highest frequency of deletion, followed by AZFb, and AZFa has the lowest detection rate. The incidence of microdeletions in patients with azoospermia was 12.31%, and the incidence of microdeletions in patients with severe oligospermia was 5.43%. 100 cases of the control group did not find any absence of two groups, the difference was significant (P <0.001). Conclusions Male infertility is closely related to Y chromosome microdeletion. The multiplex PCR method established in this study, a liquid chip technology platform, is used for YqAZF screening in male infertility patients with reliable, rapid, reproducible and high throughput.