特发性无精症和严重少精症患者Y染色体微缺失的分子检测

Molecular Detection of Y Chromosome for the Patients with Idiopathic Azoospermia and Severe Oligozoospermia

目的 :研究特发性无精症和严重少精症患者与 Y染色体微缺失的关系 ,建立无精症和严重少精症患者 Y染色体微缺失的分子检测方法。方法 :应用 PCR技术对 1 0 0例无精症和严重少精症患者 (其中无精症 72例 ,严重少精症 2 8例 )进行 Y染色体 AZFa、AZFb、AZFc/DAZ、SRY的微缺失检测。结果 :1 2例患者 (1 2 % )有 AZFc的微缺失 (其中无精症 8例 ,占 1 1 .1 % ;严重少精症 4例 ,占 1 4.3% ) ,且其中 1例无精症患者为 AZFb、AZFc双重缺失 ;所有病例未发现有 AZFa的缺失 ;SRY基因 PCR扩增均为阳性。6 0例已有生育的正常男性均无 AZFa、AZFb、AZFc、SRY微缺失。结论 :Y染色体微缺失 ,特别是 AZFc/DAZ的缺失是引起无精和严重少精、造成男性不育的重要原因之一 ,在进行遗传咨询和行卵细胞质内注入精子术 (ICSI)时 ,有必要对不明原因的不育男性患者进行

Objective:To study the relationship between microdeletion on Y chromosome and the patients with idiopathic azoospermia and severe oligozoospermia and establish the molecular detection method for the patients with azoospermia and severe oligozoospermia. Methods: Microdeletion detection at the AZFa?AZFb?AZFc/DAZ?SRY region of Y chromosome in 72 azoospermia and 28 severe oligozoospermia patients was performed using the PCR technique. Results: Twelve patients with AZFc/DAZ micodeletion, including 8 azoospermia(11.1% )and 4 severe oligozoospermia(14.3%), had been found and 1 patient with AZFb and AZFc/DAZ double deletion had been found; the deletion of AZFa and SRY region hadn't been found. The deletion of AZFa?AZFb?AZFc/DAZ?SRY region hadn't been found in 60 normal men with children. Conclusion: Microdeletion on Y chromosome, especially AZFc/DAZ, is a major cause of azoospermia and severe oligozoospermia leading to male infertility. It is necessary that we detect microdeletion on Y chromosome when genetic counseling and ICSI.