Y染色体微缺失与无精子症少精子症关系的研究  

Study on relationship of Y chromosome microdeletion with azoospermia or oligozoospermia

作　　者：王恒才[1] 栾英姿[1] 路西兰[1] 侯孟彦[1] 张迎春[1] 王红霞[1] 张意茗[1] 

机构地区：[1]山东大学附属济南市中心医院生殖医学科,济南250013

出　　处：《中国男科学杂志》2009年第2期45-48,共4页Chinese Journal of Andrology

摘　　要：目的探讨Y染色体微缺失与无精子症、少精子症的关系。方法应用多重聚合酶链反应技术(PCR)对127例无精子症(80例)和严重少精子症(47例)的不育患者及60例正常生育男性进行Y染色体AZF基因、DAZ外显子检测。结果无精子和严重少精子患者Y染色体微缺失7例,缺失率5.51%。其中AZFc缺失2例,DAZ外显子缺失5例。少精子症组缺失率8.51%,无精子症组缺失率3.75%,小睾丸组的缺失率6.54%,正常睾丸组缺失率4.94%,正常生育男性AZF基因和DAZ外显子均未检测到缺失。结论(1) AZF因子、DAZ外显子微缺失可导致无精子症、严重少精子症;(2)绝大部分无精子、严重少精子患者Y染色体AZF因子、DAZ外显子并没有微缺失,有必要再去寻找新的精子发生基因。Objectives To investigate the relationship of Y chromosome microdeletion with azoospermia or oligozoospermia. Methods The expression of AZFc and DAZ gene were detected by multiplex PCR in 127 patients with azoospermia （80 cases） and severe oligozoospermia （47 cases） and 60 normal men. Results Y chromosome microdeletion was detected in 7 of azoospermia and oligozoospermia patients （5.51%） including 2 cases AZFc gene deletion and 5 cases DAZ gene deletion The ratio of AZFc gene and DAZ gene deletion was 8.51% in oligozoospermia group, 3.75% in azoospcmma group, 6.54% in small testicle group and 4.94% in group with normal testicle volume. Microdeletion in Y chromosome was not detected in normal group. Conclusion （1） Microdeletion of AZF and DAZ exon might result in occurrence of azoospermia and oligozoospermia; （2） Y chromosome microdeletion wasn＇t detected in most patients with azoospermia and oligozoospermia, which indicated that some new key genes might involve in regulating spermatogenesis.

关 键 词：染色体 人 Y 少精子症 不育 男性 

分 类 号：R698.2[医药卫生—泌尿科学]