220例无精子症和严重少精子症患者遗传学分析

Genetic analysis in 220 patients with azoospermia and severe oligozoospermia

目的:检查无精子、严重少精子患者的染色体异常和Y染色体上无精子基因(AZF)微缺失的遗传缺陷。方法:应用外周血培养和聚合酶链反应(PCR)技术,对220例无精子、严重少精子患者的染色体和11个AZF基因位点进行检查。结果:在140例无精子患者中,发现19例患者染色体异常,异常率为13.57%。有21例患者有AZF基缺失,总缺失率为20.31%,AZFa、AZFb、AZFc缺失率分别为2.38%、4.76%、16.67%。在80例严重少精子患者中,有14例患者有AZF基因缺失,总缺失率为17.50%,AZFb和AZFc的基因片段缺失率分别为1.25%和17.50%。未发现有染色体异常和AZFa缺失。结论:染色体异常和无精子基因微缺失是导致无精子症、少精子症主要因素,遗传学检查对男性不育患者的病因诊断与治疗有着重要价值。

Objectives： To examine the genetic defects of chromosome and AZF microdeletion on Y chromosome in the patients with azoospermia and severe oligozoospermia. Methods： The chromosome and 8 site of AZFc microdeletion on the Y chromosome for 220 patients with azoospermia and severe oligozoospermia are detected using peripheral blood culture and the polymerase chain reaction （PCR）. Reasults： There are 19 chromosome disorder（ 13.57% ） and 21 AZF microdeletion（20. 31% ） in 140 azoospermia patients. And the AZFa, AZFb and AZFc deletion rate is 2. 38% ,4. 76% ,16.67% . There are 14 AZF microdeletion（ 17.50% ） in 80 severe oligozoospermia patients. And the AZFb and AZFc deletion rate is 1.25% andl7.50%. The chromosome and AZFa deletion had not been found. Conclusion： The chromosome disorder and AZF microdeletion of Y chromosome are mostly causative factors of patients with azoospermia and severe oligozoospermia. The genetic examine is of important value to diagnosis and treatment of male sterility.