1000例无精子症和严重少精子症患者的Y染色体微缺失检测及分析  

Screening and analysis of the microdeletion in the Y chromosome in 1000 cases of men with azoospermia or severe oligozoospermia

作　　者：常亮[1] 赵楠[1] 高雪峰[1] 李丹[1] 邵敏杰[1] 张小为[1] 

机构地区：[1]北京大学第三医院妇产科,北京100191

出　　处：《中国优生与遗传杂志》2010年第6期29-30,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨Y染色体微缺失检测的意义。方法应用多重PCR对329例无精子症和671例严重少精子症患者行Y染色体AZFa、AZFb和AZFc基因微缺失检测。结果共检出Y染色体微缺失76例(7.6%),其中AZFc缺失60例(78.9%)。无精子症患者检出率为10%,严重少弱精子症患者检出率为6.4%,这两组缺失率有统计学意义(P<0.05)。结论 AZFc缺失是最常见的缺失类型。无精子症患者Y微缺发生率较严重少精子症患者高。Y染色体微缺失检测为这类患者的遗传咨询提供重要依据。Objective： To evaluate the significance of Y microdeletion testing. Methods： AZFa, AZFb, AZFc gene in the Y chromosome were screened by means of multiplex PCR in 329 cases of men with azoospermia and 671 cases of men with oligozoospermia. Results： We identified 76 microdeletions （7.6%）, and 60 microdeletions were the AZFc deletions （78. 9% ）. 10% of azoospermic men and 6.4% of men with severe oligozoospermia harbored microdeletions. The deletion rates of azoospermia group had significant difference when compared with that of the severe oligospermia group （ P 〈0. 05 ）. Conclusions ： AZFc deletion was the most common deletion. The incidence of Y mirodeletion is higher in azoospermic men than that in severe oligozoospermia men. Y mierodeletion testing is essential for genetic counseling in these patients.

关 键 词：男性不育 Y染色体微缺失 遗传检测 

分 类 号：R698.2[医药卫生—泌尿科学]