2230对生殖异常夫妇男性染色体异常因素分析  

Analysis of the abnormal factors of male chromosome in 2230 couples with abnormal reproduction

作　　者：邸建永[1] 张美姿 刘烨 刘丽[1] 徐凤琴[1] Di Jianyong;Zhang Meizi;Liu Ye;Liu Li;Xu Fengqin(Department of Reproductive medicine,TianJin First Center Hospital,TianJin,300192,China)

机构地区：[1]天津市第一中心医院生殖医学科,天津300192

出　　处：《中国男科学杂志》2020年第3期21-25,共5页Chinese Journal of Andrology

摘　　要：目的探讨生育异常夫妇中男性染色体异常出现的频率和类型及少精子症或无精子症患者Y染色体微缺失出现的频率和类型。方法对2230对生育异常夫妇中男性外周血淋巴细胞培养,G显带,核型分析;对其中432例少精子症或无精子症患者外周血提取DNA,通过实时荧光定量PCR进行Y染色体微缺失检测。结果2230例男性中异常核型75例,异常检出率3.36%(75/2230),432例少精子症或无精子症男性检测出32例存在Y染色体AZF区域缺失,检出率7.41%(32/432)。结论对生育异常的男性进行核型分析,同时对少精子症或无精子症男性进行Y染色体微缺失的检测有助于病因的诊断及遗传咨询,进行生育指导。Objective To explore the frequency and type of male chromosome abnormality in couples with abnormal reproduction and the frequency of Y chromosome deletions in males with oligozoospermia or azoospermia.Methods Peripheral blood lymphocytes cultivating and conventional chromosome G-banding karyotype detection were performed in the male in 2230 couples with reproduction abnormalities;AZF microdeletions were further detected in 432 males with oligozoospermia or azoospermia by Quantitative Real-time PCR.Results Among the 2230 males,75cases were abnormal chromosome karyotypes,and the abnormal detection rate was 3.36%(75/2230),In 432 males with oligozoospermia and azoospermia males,AZF microdeletions on Y chromosome was detected in 32 cases,the detection rate was 7.41%(32/432).Conclusion karyotype analysis in males with abnormal fertility and the detection of Y chromosome microdeletion of the male with oligozoospermia or azoospermia are helpful for the diagnosis of the etiology,genetic consultation and fertility guidance.

关 键 词：生殖异常 男性不育 染色体畸变 Y染色体微缺失 

分 类 号：R698.2[医药卫生—泌尿科学] R394.3[医药卫生—外科学]