1324例少精子症和无精子症患者的染色体核型分析  

Analysis of chromosome in 1324 patients with oligozoospermia or azoosperm

作　　者：代晓微 徐影[1] 郑连文[1] 李凌云[1] 李丹丹[1] 谭鑫[2] 高飞[1] 王艳[1] 吴桂杰[1] DAI Xiao-wei;XU Ying;ZHENG Lian-wen;LI Ling-yun;LI Dan-dan;TAN Xin;GAO Fei;WANG Yan;WU Gui-jie(Center for Reproduction Medicine;Medical Insurance Office,the Second Hospital of Jilin University,Changehun 130041,China)

机构地区：[1]吉林大学第二医院生殖中心,长春130041 [2]吉林大学第二医院医疗保险办公室,长春130041

出　　处：《北京大学学报（医学版）》2018年第5期774-777,共4页Journal of Peking University:Health Sciences

基　　金：吉林省科技发展计划(20150311035YY);吉林省医药产业发展引导资金项目(140204YY010016711)~~

摘　　要：目的:探索男性不育中少精子症和无精子症患者的遗传异常情况,为临床诊治和咨询奠定基础。方法:回顾性分析2015年1月至2016年5月在吉林大学第二医院生殖中心男科就诊的不育患者,排除不良育产史的患者,其中少精子症876例、无精子症448例,计1 324例患者纳入研究。患者进行体格检查、彩超检查、精浆Zn测定、内分泌激素测定、染色体核型分析检测、Y染色体微缺失检测。结果:在876例少精子症患者中有78例存在染色体结构和数目异常,其中性染色体数目异常者22例,性染色体和常染色体结构异常者56例;在448例无精子症患者中有91例染色体结构和数目异常,其中性染色体数量异常者78例,结构异常者13例。此外,全部1 324例患者中染色体多态改变的有137例,无精子因子(azoospermia factor,AZF)基因微缺失的有43例。结论:男性不育少精子症和无精子症患者染色体核型异常的发生率较高,对其进行染色体核型分析有助于对病因的诊断以及遗传咨询。Objective： To explore the incidience of chromosome abnormality of the patients with oligozoospermia or azoospermia and male infertility,to discuss the relationship between the quantitative and structural abnormality of chromosome and to lay the foundation for the clinical diagnosis and consultation.Methods： A retrospective analysis was conducted from January 1,2015 to May 1,2016,in the Center for Reproduction Medicine,the Second Hospital of Jilin University,with male reproductive abnormalities history excluded. In the study,1 324 cases were included with 448 cases of azoospermia and 876 cases of oligozoospermia. All the patients through ultrasound examination,color Doppler ultrasonography,the seminal plasma Zn determination,their hormone level determination,chromosome karyotype（ the perinatal blood samples were obtained from the 1 324 patients with oligozoospermia or azoospermia for lymphocyte culture,then chromosomal specimens were prepared,G-banding analyses combined with clinical data were used to statistically analyze the incidence of chromosomal abnormality）,Y chromosome azoospermia factor [PCR technique was used to detect SY157 locus,SY254 locus,and SY255 locus in male Y chromosome azoospermia factor（ AZF） gene of the patients with oligozoospermia or azoospermia]. The relationship between chromosome abnormalities and oligozoospermia or azoospermia were analyzed. Results：Among the 876 cases of oligospermia patients,78 cases were chromosome number abnormality and chromosomal structural abnormality,the abnormal number of sex chromosomes in 22 cases,and sex chromosomes and chromosome structural abnormalities in 56 cases; in the 448 cases of azoospermia patients,91 cases were chromosomal structural abnormality and chromosome number abnormality,of them,78 cases were of abnormal number of sex chromosomes,and 13 cases were of abnormal structure. In addition,137 cases were of chromosome polymorphism in all the 1 324 patients,The incidence of Y chromosome abnormality in azoospermatism was higher than th

关 键 词：男性不育 无精子症 少精子症 染色体畸变 遗传咨询 

分 类 号：R698.2[医药卫生—泌尿科学]