Y染色体无精子症因子缺失与男性不育的关系  

Relationship between azoospermia factor gene microdeletion in Y chromosome and male infertility

作　　者：马逸[1] 陈斌[1] 王鸿祥[1] 胡凯[1] 韩银发[1] 王益鑫[1] 

机构地区：[1]上海交通大学医学院仁济医院泌尿外科上海市男科学研究所,上海200001

出　　处：《上海交通大学学报（医学版）》2008年第3期239-242,共4页Journal of Shanghai Jiao tong University:Medical Science

基　　金：上海市自然科学基金(04ZR14068);上海市人口和计划生育委员会基金(2007JG06)~~

摘　　要：目的探讨Y染色体无精子症因子(AZF)缺失与男性不育的关系。方法随机选取男科门诊不育症患者728例,其中正常精子密度46例,少精子症459例,严重少精子症93例,非梗阻性无精子症71例,梗阻性无精子症45例,射精功能障碍14例;另设正常对照组50名。应用PCR对Y染色体序列标准位点sY84、sY86、sY127、sY134、sY254及sY255进行检测。结果728例不育症患者中,AZF缺失共18例,缺失发生率为2.47%,与正常对照组(0%)比较有统计学差异(P=0.000)。其中严重少精子症8例(8.60%),非梗阻性无精子症10例(14.08%)。结论AZF缺失是男性不育症,特别是无精子症和严重少精子症发病的重要原因之一,其基因检测为男性不育的病因诊断、治疗及预后提供了一定依据。Objective To investigate the relationship between azoospermia factor （AZF） gene microdeletion in Y chromosome and male infertility. Methods Seven hundred and twenty-eight outpatients diagnosed with infertility and 50 normal controls were randomly selected. Of the 728 infertile patients, 46 were with normal sperm counts, 459 oligospermia, 93 severe oligospermia, 71 non-obstructive azoospermia, 45 obstructive azoospermia and 14 ejaculatory dysfunction. Six sequence-tagged sites （STS） of AZF-sY84, sY86, sY127, sY134, sY254 and sY255 were detected by PCR. Results Of all the 728 infertile patients, 18 cases of AZF microdeletion were found with an overall prevalence of 2.47% , significantly different from the normal controls （ 0% ） （ P= 0. 000 ）. And the prevalence of AZF microdeletion in those with severe oligospermia and non-obstructive azoospermia were 8.60% （8 cases） and 14.08% （10 cases） , respectively. Conclusion Microdeletion of AZF is significantly related to male infertility, especially to severe oligospermia and azoospermia. Screening for AZF microdeletion may contribute to the clinical diagnosis, treatment and prognosis of male infertility.

关 键 词：Y染色体 染色体缺失 无精子症因子 男性不育 

分 类 号：R698.2[医药卫生—泌尿科学]