呼和浩特地区209例无精子症和严重少弱精子症患者的遗传因素调查  

To investigate the genetic causes in 209 azoospermia and severe oligozoospermia

作　　者：赵晓曦[1] 武艾宁[1] 梁琳[1] 朱小军[2] 

机构地区：[1]内蒙古医学院附属医院妇产科 [2]内蒙古医学院附属医院泌尿外科,呼和浩特010050

出　　处：《中国优生与遗传杂志》2012年第3期122-123,共2页Chinese Journal of Birth Health & Heredity

基　　金：内蒙古自然科学基金编号:2010MS1103

摘　　要：目的探讨染色体数目和结构异常,以及Y染色体无精子因子基因拷贝缺失与男性不育的关系。方法利用染色体G显带和PCR检测技术,对209例无精症和少弱精症患者进行外周血染色体检查,对在染色体核型分析中Y染色体部分缺失患者5例,11例小Y患者,以及1例Y染色体数目和结构均有异常的嵌合体患者,共17例进行Y染色体微缺失检测。结果共发现染色体异常核型71例,占34.9%。Y染色体微缺失患者4例。结论在无精症和少弱精症患者中存在较高频率染色体数目和结构异常,以及无精子因子基因拷贝缺失,遗传因素是造成男性不育的重要因素。Objective：To investigate the correlation of male infertility with abnormality of chromosomal quantity and construction and with the deletion of the gene copy in the azoospermia region of Y chromosome.Methods： Chromosomal quantity and construction of 209 azoospermic and severe oligozoospermic patient in the study were detected by G-band.In 5 cases with Y chromosomal deletion,11 cases with small Y chromosome and one case with Y chromosomal quantity and construction,the deleted-in-azoospermia（DAZ） gene were analyzed.Results： In 209 azoospermic and severe oligozoospermic patients,71 patients（34.9%） with abnormality of chromosomal quantity and construction and 4 cases with DAZ gene were found.Conclusion：There is a high frequency of chromosomal abnormality and the deleted-in-azoospermia gene in the patients with azoospermia and severe oligozoospermia,which suggests that chromosomal abnormality and partial and complete deletion of the azoospermia gene migh be important genetic causes of male infertility.

关 键 词：男性不育 染色体异常 Y染色体微缺失 

分 类 号：R698.2[医药卫生—泌尿科学]