特发性无精症患者Y染色体AZF基因微缺失检测

Detection of AZF gene microdeletion in Y chromosome for patients with idiopathic azoospermia and severe oligozoospermia

目的:特发性无精及严重少精患者Y染色体末端AZF基因微缺失情况。方法:应用PCR技术对107例无精及严重少精患者及20例有生育能力的正常男性进行Y染色体SRY、AZFa、AZFb、AZFc的微缺失检测。结果:11例无精症患者存在AZFc基因的微缺失,未检测出AZFa、AZFb及SRY基因的缺失,20例有生育能力的正常男性均无SRY、AZFa、AZFb、AZFc的微缺失。结论:AZFc是引起无精和造成男性不育的原因之一。

Aim： To study the microdeletion of AZF gene in Y chromosome for the patients with idiopathic azoospermia and severe oligozoospermia. Methods： Microdeletion detection at the AZFa,AZFb,AZFc,SRY region of Y chromosome in 82 cases of azoospermia, 25 cases of severe oligozoospermia and 20 normal male controls was performed using the PCR technique. Results： Eleven patients with azoospermia had the AZFc microdeletion, and no deletion of AZFa, AZFb,AZFc or SRY region of Y chromosome in normal control was found. Conclusion ： Microdeletion of AZFc in Y chromosome is a major cause of azoospermia leading to male infertility. It is necessary to detect the microdeletion of Y chromosome at genetic counsultation.