复发性自然流产夫妇中女性染色体变异的分布情况研究  

STUDY ON THE DISTRIBUTION CHARACTERISTICS OF FEMALE CHROMOSOME VARIATION IN RECURRENT SPONTANEOUS ABORTION COUPLES

作　　者：武艾宁[1] 赵晓曦[1] 于荣鑫 WU Ai-ning;ZHAO Xiao-xi;YU Rong-xin(The Affiliated Hospital,Inner Mongolia Medical University,Hohhot 010050 China)

机构地区：[1]内蒙古医科大学附属医院妇科

出　　处：《内蒙古医科大学学报》2019年第2期113-117,共5页Journal of Inner Mongolia Medical University

基　　金：国家自然科学基金(81660542)

摘　　要：目的:分析复发性自然流产(RSA)夫妇中女性染色体情况,为指导生殖诊断及干预提供依据。方法:选择2014-02~2018-06期间在内蒙古医科大学附属医院妇科门诊就诊,确诊为RSA的1060对(2120例)夫妇进行外周血染色体核型分析,重点观察女性染色体变异的发生率、类型及其分布情况。结果:2120例受试者中染色体异常共检出154例(7.26%),染色体异常核型中女性共99例占64.29%,男性55例占35.71%,女性染色体异常率高于男性,差异具有统计学意义(P<0.05);女性染色体异常检出者中以多态变异核型最常见,共检出57例,占56.57%,分别为9号染色体臂间倒位27例,D/G组随体增加16例和次缢痕增加14例;本组染色体结构异常共检出39例,占39.39%,分别为罗伯逊易位21例、相互易位14例和倒位4例;本组染色体数目异常共检出3例,占3.03%,表现为性染色体嵌合。结论:复发性自然流产夫妇中女性染色体变异比例较高,其分布主要集中于染色体多态性和染色体结构异常方面;加强对有自然流产史女性的细胞遗传学观察,对明确RSA的病因学特征具有重要意义。Objective:To analyze the chromosomal variation of female in recurrent spontaneous abortion(RSA)and provide guidance for the diagnosis and treatment of reproductive.Methods:From February 2013 to June 2017 in the department of gynecology department of the first affiliated hospital of inner Mongolia medical university,we confirmed that 1060 cases of RSA patients(2120 cases)underwent peripheral blood chromosome karyotype analysis,mainly to observe the incidence,classification and distribution of female chromosome variation.Results:2120 subjects,154 cases( 7.26 %)were detected abnormal chromosome,99 cases( 64.29 %)were female,55 cases( 35.71 %)were male( P < 0.05 ),the difference was statistically significant( P < 0.05 ).There were 57 cases( 56.57 %)with the highest number of polymorphic mutations in female chromosome abnormality detection,27 cases of arm inversion of chromosome 9,and 16 cases of satellite increase in d/g group and 14 cases of secondary constriction.In this group,39 cases( 39.39 %)were detected,including 21 cases of Robertsonian translocation,14 cases of reciprocal translocation and 4 cases of inversion.There were 3 cases of abnormal chromosome number,accounting for 3.03 %,which showed sex chromosome mosaic.Conclusion:The female chromosome variation is high in recurrent spontaneous abortion,which is mainly distributed in chromosome polymorphism and structural abnormality of chromosome.Strengthening the observation of cytogenetics in women with the history of spontaneous abortion is of great significance in finding the etiology of RSA.

关 键 词：复发性自然流产 染色体核型 变异(遗传学) 分布 

分 类 号：R711.7[医药卫生—妇产科学]