1400例广西壮族男性不育患者Y染色体微缺失与染色体核型分析  

An analysis on the Y chromosome microdeletion and chromosome karyotype for 1400 male cases with infertility in Zhuang ethnic group of Guangxi

作　　者：曾江辉 石明芳 周元圆 赖春慧 梁秀云 ZENG Jianghui;SHI Mingfang;ZHOU Yuanyuan;LAI Chunhui;LIANG Xiuyun(Department of Clinical Laboratory,the Third Affiliated Hospital of Guangxi Medical University,the Second Nanning People’s Hospital,Nanning,Guangxi 530031,China;PGT Laboratory of the Reproductive Center,the Third Affiliated Hospital of Guangxi Medical University,the Second Nanning People’s Hospital,Nanning,Guangxi 530031,China;Guangxi Key Laboratory of Molecular Immunology Research,Nanning,Guangxi 530031,China.)

机构地区：[1]广西医科大学第三附属医院/南宁市第二人民医院,医学检验科,广西南宁530031 [2]广西医科大学第三附属医院/南宁市第二人民医院生殖中心PGT实验室,广西南宁530031 [3]广西分子免疫研究重点实验室,广西南宁530031

出　　处：《中国优生与遗传杂志》2023年第7期1383-1390,共8页Chinese Journal of Birth Health & Heredity

基　　金：广西自然科学基金项目(2018GXNSFAA050150)。

摘　　要：目的探讨广西壮族男性不育患者Y染色体无精子因子(AZF)微缺失发生率及外周血染色体核型,为遗传咨询和临床诊断、治疗提供依据。方法回顾性分析2011年5月至2021年3月来南宁市第二人民医院生殖中心就诊的1400例广西壮族男性不育患者,采用聚合酶链反应(PCR)检测AZF微缺失,同时进行外周血染色体制备并进行核型分析。结果1400例壮族男性不育症患者中,Y染色体微缺失检出137例占比9.79%(137/1400),检出率最高的缺失类型为AZFc;检出染色体核型异常264例,占比18.64%(261/1400),其中性染色体异常239例,占比17.07%(239/1400),常染色体异常22例,占比1.57%(22/1400);检出染色体多态性核型95例,占比6.79%(95/1400);染色体核型异常或多态性合并AZF基因微缺失的不育患者37例,占比2.64%(37/1400)。结论染色体核型分析和AZF微缺失检测有助于寻找广西壮族男性不育症的病因,为辅助生育提供第一手遗传咨询信息,在遗传咨询、疾病诊断、接受辅助生殖治疗和治疗方案的选择上提供必要的实验室依据。Objective To investigate the patients with infertility in Zhuang ethnic group of Guangxi for the incidence of Y chromosome azoospermia factor microdeletion and the chromosome karyotype in peripheral blood,and thus provide evidence for relevant genetic consultation,as well as clinical diagnosis and treatment.Methods A retrospective analysis was carried out among 1400 male cases with infertility in Zhuang ethnic group of Guangxi who were treated in the Reproductive Center of the Second Nanning People’s Hospital between May 2011 and March 2021.In the analysis,the AZF microdeletion was detected by polymerase chain reaction,and at the same time,peripheral blood chromosome preparation and karyotype analysis were performed.Results Among the 1400 male cases with infertility in Zhuang ethnic group,137 cases(9.79%,137/1400)were found with Y chromosome microdeletion,with AZFc as the type with the highest microdeletion detection rate.264 cases(18.64%,264/1400)had chromosomal abnormalities,including 239 cases(17.07%,239/1400)with sex chromosomal abnormalities and 22 cases(1.57%,22/1400)with autosomal abnormalities.95 cases(6.79%,95/1400)had a karyotype of chromosome polymorphism,and 37 cases(2.64%,37/1400)had chromosome karyotype abnormality or polymorphism accompanied by AZF gene microdeletion.Conclusion The chromosome karyotype analysis and AZF microdeletion detection may help to identify the cause of male infertility in Zhuang ethnic group of Guangxi,provide the first-hand information for genetic consultation concerning assisted reproduction,and give laboratory basis necessary for genetic consultation,disease diagnosis,reception of assisted reproductive therapies,and selection of relevant regimens.

关 键 词：男性不育 少数民族 染色体核型分析 Y染色体微缺失 遗传学 

分 类 号：R698.2[医药卫生—泌尿科学]