中国西南地区10339例不孕不育患者外周血染色体核型分析  

Peripheral blood karyotyping analysis of 10339 infertile patients from southwest China

作　　者：龙艳喜 徐丽 杨琴 莫晖 唐莉[1] 王华伟[1] Long Yanxi;Xu Li;Yang Qin;Mo Hui;Tang Li;Wang Huawei(Department of Genetics and Reproduction,the First Affiliated Hospital of Kunming Medical University,Kunming 650032,China;The People's Hospital of Wuhua District,Kunming 650032,China)

机构地区：[1]昆明医科大学第一附属医院生殖遗传科,云南昆明650032 [2]昆明市五华区人民医院药剂科,云南昆明650032

出　　处：《中国产前诊断杂志（电子版）》2024年第2期13-18,共6页Chinese Journal of Prenatal Diagnosis(Electronic Version)

基　　金：国家自然科学基金项目(82160281);国家级大学生创新创业项目(202010678060);上海市胚胎源性疾病重点实验室开放课题(She2020006);云南省科技厅面上项目(2019FB096);云南省卫生健康委员会高层次医学学科带头人(D-2017007);云南省高层次人才培养职称计划“名医专项”(RLMY20200017);云南省大学生创新创业一般项目(202010678060);昆明医科大学2023年硕士研究生创新基金立项项目(2023S240)。

摘　　要：目的全球约8%~12%的育龄人口面临不孕不育问题,而染色体多态性与不孕不育的相关性目前仍存在一定的争议。本文分析不孕不育患者外周血染色体异常核型的异常变化规律,为临床诊疗方案制定提供参考。方法回顾性分析2021年1月至2023年12月到昆明医科大学第一附属医院生殖遗传科就诊的10339例不孕不育患者的外周血染色体G显带核型。结果10339例样本中,染色体异常检出224例,异常率为2.17%。其中男性4881例,检出117例染色体异常,异常率为2.40%;女性5458例,检出107例染色体异常,异常率为1.96%;主要包括平衡易位73例(32.59%,73/224),罗氏易位29例(12.95%,29/224),克氏综合征51例(22.77%,51/224),唐氏综合征6例(2.68%,6/224),特纳综合征24例(10.71%,24/224),性反转13例(5.80%,13/224),结构多态性改变655例(6.34%,655/10339)等。常染色体结构异常比例偏高,男性多态性改变高于女性。结论不孕不育患者中染色体多态性的发生率高于染色体异常率,且平衡易位在染色体异常中占比最高,提示染色体异常与染色体多态性都可能是导致不孕不育的重要遗传因素,对不孕不育患者开展染色体核型分析,可提高患者的诊断、有助于选择最佳治疗方案、降低后代染色体异常风险,有助于实现优生优育和提高我国出生人口素质。Objective About 8%~12%of the population of childbearing age are suffering from infertility.And the correlation of chromosome polymorphism and infertility is still somewhat controversial.To analyze the rate of abnormal karyotypes among the population suffered from infertility and provide strong evidence for performing the reliable clinical treatment.Methods The peripheral blood chromosome karyotype of 10339 patients,who visited the Department of Reproductive Genetics,the First Affiliated Hospital of Kunming Medical University from January 2021 to December 2023 for suffering from infertility,their peripheral blood chromosome karyotypes were analyzed here.Results Among 10339 samples,224 cases had the abnormal chromosomal karyotypes,with an abnormal rate of 2.17%.Among 4881 male patients,117 patients had the abnormal karyotypes(2.40%);among 5458 female patients,107 patients had the abnormal chromosomal karyotypes,with an abnormal rate of 1.96%.Among which,73 patients(32.59%,73/224)were suffered from chromosome balanced translocation,chromosome karyotype of 29 patients(12.95%,29/224)were identified to be Roche translocation,51 of them were male patients with the Klinefelter's(22.77%,51/224),6 patients were diagnosed to be Down syndrome(2.68%,6/224),24 women have the chromosome karyotype of Turner syndrome(10.71%,24/224),13 patient was suffered from sex reversal(5.80%,13/224),in addition,and the chromosome karyotypes of 655 patients showed the structural polymorphisms(6.34%,655/10339).The rate of abnormal autosomal chromosome karyotypes was higher than that of sex chromosomes.Male patients have the higher rate of abnormal chromosome karyotypes than female patients.Conclusion Chromosome abnormality was an important genetic factor causing infertility.The incidence of chromosomal polymorphism in infertile patients is higher than that of chromosomal abnormalities,and balanced translocation accounts for the highest proportion of chromosomal abnormalities,which may be an important genetic factor leading to infertility.Karyot

关 键 词：不孕不育 染色体异常 辅助生殖 

分 类 号：R715.5[医药卫生—妇产科学]