男性不育患者Y染色体微缺失和染色体核型的研究
Study on Y chromosome microdeletion and karyotype in male infertile patients
张思 1范舒舒 1黄文波 1苗淑红 1马占忠1
作者信息
- 1. 汕头大学医学院附属粤北人民医院生殖医学中心,广东韶关 512026
- 折叠
摘要
目的 探讨男性不育患者中Y染色体微缺失、染色体核型异常与男性精液质量的关系,为男性不育患者的临床治疗和选择合理的生殖辅助技术以及优生优育提供科学依据.方法 回顾性分析2019年1月至2023年12月于汕头大学医学院附属粤北人民医院生殖医学中心就诊的男性不育患者210例,分为无精子症组、严重少精子症组、少精子症组.同期36例健康男性为对照组.所有患者均进行精液常规分析,采用PCR荧光探针法进行Y染色体微缺失检测和G显带技术进行染色体核型分析.结果 210例不育男性中检出11例Y染色体微缺失异常,29例染色体核型异常,染色体正常多态性3例,1例无精患者CFTR基因杂合突变.其中最常见的异常染色体核型为47,XXY,检出14例.36例健康对照组中有3例染色体正常多态性.男性不育组和健康对照组在Y染色体微缺失和染色体核型异常检出率存在显著差异.结论 Y染色体微缺失和染色体核型异常是男性不育的重要因素.孕前进行遗传学检查,有助于患者诊断治疗和选择合理的生殖辅助技术,为优生优育提供科学依据.
Abstract
Objective To explore the relationship between Y chromosome microdeletions,karyotypes and male semen quality in male infertile patients,so as to provide scientific basis for the clinical treatment of male infertile patients and the selection of reasonable reproductive assistance techniques and eugenics.Methods Retrospective analysis of 210 male infertile patients who visited the Reproductive Medicine Center of Northern Guangdong People's Hospital from January 2019 to December 2023,divided into azoospermia group,severe oligozoospermia group,and oligozoospermia group.36 healthy males were selected as the control group during the same period.All patients underwent routine semen analysis,and using PCR fluorescent probe method for Y chromosome microdeletion and G-banding techniques for chromosome karyotype analysis.Results Among 210 infertile males,11 cases of Y chromosome microdeletion abnormalities,29 cases of chromosomal karyotype abnormalities,3 cases of chromosomal normal polymorphism,and 1 case ofCFTR gene heterozygous mutation were detected.The most common abnormal chromosome karyotype among them is 47,XXY,with 14 cases detected.Among the 36 healthy control groups,3 cases had normal chromosomal polymorphisms.There were significant differences in the Y chromosome microdeletions and karyotype abnormalities between the male infertile group and the healthy control group.Conclusion Y chromosome microdeletions and chromosomal karyotypes abnormalities are important factors in male infertility.Conducting genetic testing before pregnancy can help patients diagnose,treat and choose appropriate reproductive assistance techniques.Provide scientific basis for eugenics.
关键词
男性不育/Y染色体微缺失/染色体核型/优生优育Key words
Male infertility/Y chromosome microdeletion/Karyotype/Eugenics引用本文复制引用
出版年
2024
NETL
NSTL
万方数据