基于辅助生殖人群的复发性流产夫妇染色体核型回顾性分析  

A retrospective analysis of chromosome karyotypes in RSA couples from assisted reproductive population

作　　者：赵冰清 高选[1] 李江夏 ZHAO Bingqing;GAO Xuan;LI Jiangxia(Center for Reproductive Medicine,Cheeloo College of Medicine,Shandong University,National Research Center for Assisted Reproductive Technology and Reproductive Genetics,Key Laboratory of Reproductive Endocrinology of Ministry of Education,Jinan 250001,Shandong,China;Department of Medical Genetics,School of Basic Medical Sciences,Cheeloo College of Medicine,Shandong University,The Key Laboratory of Experimental Teratology,Ministry of Education,Jinan 250012,Shandong,China)

机构地区：[1]山东大学生殖医学研究中心国家辅助生殖与优生工程技术研究中心生殖内分泌教育部重点实验室,山东济南250001 [2]山东大学基础医学院医学遗传学系实验畸形学教育部重点实验室,山东济南250012

出　　处：《山东大学学报（医学版）》2021年第7期26-31,共6页Journal of Shandong University:Health Sciences

基　　金：山东省自然科学基金(ZR2020MH086)。

摘　　要：目的分析实施辅助生殖技术夫妇的外周血染色体核型,为临床诊疗和遗传咨询提供理论依据。方法回顾性分析2015年1月至2018年12月山东大学附属生殖医院实施辅助生殖的1438例(719对)复发性流产(RSA)患者及3292例(1646对)自然流产1次患者的外周血染色体核型,比较染色体变异的种类、发生率及其在男性和女性中的比例差异,分析流产次数与染色体核型的关系。结果1438例(719对)RSA患者中检出染色体变异320例,其中男性染色体变异165例,女性染色体变异155例;染色体结构畸变占染色体变异的57.58%,其中相互易位比率最高;不同性别1次流产组与RSA组间染色体互相易位和罗伯逊易位差异均有统计学意义(P<0.001),染色体倒位差异无统计学意义(男:P=0.21;女:P=0.83);随着流产次数的增加,男女性染色体畸变率趋势差异均有统计学意义(P<0.001)。结论实施辅助生殖人群中自然流产1次患者的染色体畸变率低于RSA患者;RSA患者的染色体异常以染色体易位多见,且染色体畸变率与流产次数无关。Objective To analyze the peripheral blood chromosome karyotypes of patients assisted with reproductive technology,so as to provide reference for the clinical diagnosis and treatment and genetic counseling.Methods From Jan.2015 to Dec.2018,1438(719 couples)patients with recurrent spontaneous abortion(RSA)and 3292(1646 couples)patients with one-time spontaneous abortion undergoing assisted reproduction were selected for chromosome karyotype analysis.The types,incidences and ratios of chromosome variations between males and females were compared.Relationship between the number of spontaneous abortions and chromosome karyotypes was analyzed.Results Of the 1438(719 couples)RSA patients,320 chromosome abnormalities were detected,among which 165 were male cases and 155 were female cases.Chromosomal structural aberrations accounted for 57.58%of chromosomal abnormalities.The ratio of mutual translocations was the highest.For the number of abortions,significant differences were detected in chromosome reciprocal translocation and Robertsonian translocation between one-time spontaneous abortion group and RSA group(P<0.01),but no significant difference in chromosome inversion was observed(male P=0.21,female P=0.83).As the number of abortions increased,the trends of male and female chromosome aberration were statistically significant(P<0.01).Conclusion The rate of chromosomal abnormality in patients with one-time spontaneous abortion is lower than that in RSA patients.The most common chromosomal abnormality in RSA patients is chromosomal translocation,and the rate of chromosomal abnormality is not related to the number of abortions.

关 键 词：辅助生殖技术 复发性流产 染色体变异 核型分析 

分 类 号：R394.2[医药卫生—医学遗传学]