Y染色体基因微缺失与男性不育的关系

目的 :探讨男性不育患者尤其是特发性无精子症、严重少精子症及双侧输精管缺如与 Y染色体基因 (无精子因子 ,AZF)微缺失的关系。方法 :对 97例男性不育患者及 2 0例正常男性采用多重聚合酶链反应法进行基因微缺失检测。结果 :36例特发性无精症患者中存在 3例缺失 ,占 8.33% ;1 4例双侧输精管缺如患者存在 2例缺失 ,占 1 4.2 9% ;2 7例严重少精症患者中存在 2例缺失 ,占 7.41 %。2 0例精子数正常的男性不育患者及 2 0例正常男性对照无 AZF缺失。缺失以 AZFa,AZFc区为主 ,AZFb区无缺失。结论 :Y染色体 AZF微缺失可能是导致男性特发性无精症、少精症的原因之一 ,双侧输精管缺如患者也存在 Y染色体的基因微缺失

The Relationship between Infertile Men and Microdeletions in the Y Chromosome

Objective: To explore the relationship between microdeletions in the Y chromosome (AZF) and azoospermia, severe oliogozoospermia and congenital bilateral absence of vas deference(CBAVD). Method: Multiplex PCR method was used to detect microdeletions among 97 cases of male infertility. Results: Microdeletions were detected in 3 (8.33%) of 36 idiopathic azoospermia. The number of microdeletions was similar in severe oligospermic patients(7.4%, 2 of 27); Among 14 CBAVD cases, 2 exist microdeletion(14.3%). No deletions were detected in the control group or infertile men with normal sperm counts. Microdeletions in CBAVD patients were seldom reported before. Deletions were mainly in AZFa and AZFc regions. Conclusion: Microdeletion of AZF in Y chromosome may cause idopathic azoospermia and severe oligozoospermia in infertile men, so does in CBAVD patients.