男性不育患者外周血染色体核型和Y染色体微缺失分析  

Analysis on chromosome karyotype,Y chromosome microdeletion and serum sex hormones levels in peripheral blood from male infertility patients

作　　者：胡斌[1] 章艳斐[1] 袁青[2] HU Bin ZHANG Yan-fei YUAN Qing(Jinhua Municipal Central Hospital Pathologic Lab. Jinhua Municipal Central Hospital Laboratory, 321000)

机构地区：[1]金华市中心医院病理科,浙江金华321000 [2]金华市中心医院检验科,浙江金华321000

出　　处：《中国优生与遗传杂志》2017年第4期68-69,67,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨男性不育患者的外周血染色体核型分析、Y染色体微缺失和血清生殖激素水平意义。方法对824例男性不育患者进行了外周血染色体核型分析、Y染色体微缺失和血清生殖激素水平检测。结果 824例男性不育患者中检出染色体畸变72例,占9.10%。其中,性染色体异常6例,占95.16%,染色体多态性60例,占83.33%,罗伯逊易位4例,占5.56%,相互易位2例,占2.78%。其中78例无精子症患者AZF微缺失检查,发现有16例存在微缺失。结论男性不育与染色体核型异常和Y染色体微缺失有密切关系。Objective：To explore the significance of chromosome karyotype analysis and Y chromosome microdeletion screening in peripheral blood from male infertility patients. Methods：Chromosome karyotype analysis,Y chromosome microdeletion screening and serum sex hormones levels detection were conducted in the peripheral blood samples from 824 patients with male infertility. Results：Out of 824 cases of male infertility,72（9.10%）patients with structural aberration of sex chromosome were detected. Among them,sex chromosomal abnormality was found in 6 cases（95.16%）,chromosomal polymorphism in 60 cases（83.33%）,Robertsonian translocation in 4 cases（5.56%）,and balanced translocation in 2 cases（2.78%）. AZF microdeletion examination results in the 78 cases of Small Y chromosome,there were 16 cases indicated microdeletion. Conclusion：Male infertility is closely correlated with chromosome karyotype abnormalities and Y chromosome microdeletion.

关 键 词：男性不育 Y染色体微缺失 

分 类 号：R698.2[医药卫生—泌尿科学]