1695例不同程度少精子症、无精子症患者的染色体遗传学差异分析  

Analysis of chromosomal genetic differences in 1,695 patients with oligozoospermia and azoospermia

作　　者：杨洋[1] 吴建淮[1] 吴意光 白万凯 蔡蛟龙 YANG Yang;WU Jianhuai;WU Yiguang;BAI Wankai;CAI Jiaolong(Department of Reproductive Medicine,Beijing Obstetrics and Gynecology Hospital of Capital Medical University,Beijing 100026,China)

机构地区：[1]首都医科大学附属北京妇产医院生殖医学科,北京100026

出　　处：《中国性科学》2024年第7期23-26,共4页Chinese Journal of Human Sexuality

基　　金：北京市医院管理中心“登峰”计划专项经费项目(DFL20191401)。

摘　　要：目的分析不同程度少精子症、无精子症患者的染色体遗传学特征,探讨染色体核型分析及Y染色体微缺失检查与少精子症、无精子症严重程度及男性不育的关系。方法选取2018年1月至2023年12月首都医科大学附属北京妇产医院收治的1695例少精子症、无精子症男性患者作为研究对象,抽取外周血进行高分辨染色体核型分析,其中590例中度、重度、极度少精子症及无精子症患者同时筛查Y染色体微缺失。结果1695例筛查染色体核型异常355例,占22.36%;其中染色体结构异常44例,数目异常22例,多态性289例。590例中度、重度、极度少精子症及无精子症患者Y染色体微缺失17例(2.88%)。138例无精子症中克氏征11例(7.97%),Y染色体微缺失17例(12.32%)。结论少精子症、无精子症患者出现染色体异常比例高于一般人群。少精子症、无精子症的发生可能与某些常见的染色体核型多态性相关;随着测序技术的展开,基因病可能是少精子症、无精子症的第一遗传因素。Objective To analyze the chromosomal genetic characteristics of male patients with different degrees of oligozoospermia and azoospermia,and to investigate the correlation between chromosome karyotype analysis,Y chromosome microdeletion test,the severity of oligozoospermia,azoospermia and male infertility.Methods A total of 1,695 male patients diagnosed with oligozoospermia and azoospermia admitted to Beijing Obstetrics and Gynecology Hospital of Capital Medical University from January 2018 to December 2023 were collected as study objects,and peripheral blood samples were obtained for high-resolution chromosome karyotype analysis.Among those,590 patients with moderate,severe,extreme oligozoospermia and azoospermia patients were screened for Y chromosome microdeletions.Results Among the 1,695 cases,a total of 355(22.36%)were abnormal karyotypes.Specifically,there were 44 cases with aberrant chromosome structure,22 cases with abnormal chromosomal numbers,and 289 cases with polymorphic variations.Of 590 patients with moderate,severe,extreme oligozoospermia and azoospermia,17 cases(2.88%)had Y chromosome microdeletion.Of 138 patients with azoospermia,there were 11 cases(7.97%)of Klinefelter syndrome and 17 cases(12.32%)of Y chromosome microdeletion.Conclusions The proportion of chromosome abnormality in patients with oligospermia and azoospermia is higher than that in the general population.The occurrence of oligospermia and azoospermia may be related to some common chromosome karyotype polymorphisms.With the development of sequencing technology,genetic disease may be the first genetic factor of oligospermia and azoospermia.

关 键 词：生殖遗传筛查 染色体异常 少精子症 无精子症 

分 类 号：R697[医药卫生—泌尿科学]