染色体嵌合体及单亲二体的研究现状  

Current research status on chromosomal mosaicism and uniparental disomy

作　　者：崔婉婷[1] 赵彦艳[1] Cui Wanting;Zhao Yanyan(Department of Clinical Genetics,Shengjing Hospital of China Medical University,Shenyang 110004,Liaoning Province,China)

机构地区：[1]中国医科大学附属盛京医院临床遗传科,沈阳110004

出　　处：《中华妇幼临床医学杂志（电子版）》2022年第2期132-138,共7页Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition)

基　　金："十三五"国家重点研发计划课题(2016YFC1000700、2016YFC1000702)。

摘　　要：染色体嵌合体(CM)和单亲二体(UPD)均与胚胎发育过程中的细胞分裂错误有关。目前多数研究认为,CM与胚胎细胞有丝分裂错误有关。利用辅助生殖技术结合单细胞高通量测序技术(NGST)进行研究发现,胚胎发育早期处于细胞分裂错误和自我纠正的动态变化中,其变化结果决定胚胎染色体的构成。染色体异常细胞可能以不同比例存在于不同组织和器官中,从而导致CM患者临床症状和染色体异常表型差异很大。UPD来源于发育过程中,胚胎对于细胞减数分裂错误或有丝分裂错误的"自救",其致病性与印迹基因有关,除明确的UPD相关疾病外,未含有印迹基因的UPD致病性尚有待进一步研究。在产前诊断中,对CM与UPD这2种染色体异常的检出率,随着NGST的发展而不断提高,但是有关其致病性判断及胎儿风险评估,则由于缺乏足够研究证据支持,而成为临床遗传咨询难点。笔者拟就上述2种染色体异常的发生机制、致病性及其产前诊断与遗传咨询的最新研究现状等进行阐述,旨在为临床对这2种染色体异常的研究提供参考。Chromosomal mosaicism(CM)and uniparental disomy(UPD)arise from the chromosome mis-segregation in cell division of embryogenesis.Recent researches demonstrated the relationships between CM and mitosis errors of embryonic cell.By assisted reproductive technology and single cell next-generation sequencing technology(NGST),researchers found that the early embryo development accompanied with dynamic processes of chromosome segregation errors and self-correction,the result of which determined the chromosome constitutions of embryo.The abnormal cell lines with chromosome disorders could distribute in different tissues and organs with variable types and proportions,which could lead to a large variation in clinical symptoms and phenotypes of CM.UPD might result from the rescue of meiosis or mitosis errors.It was wide known that the UPD disorders related to imprinted genes,and the pathogenicities of UPD in other chromosomes without imprinted genes still need to be explored.The detection rate of these two chromosome abnormalities has been improved with the development of NGST,however,due to insufficient support of deficient research evidences,it is difficult to evaluate the pathogenicities of these two chromosome abnormalities and predict the risk of fetal involvement confidently in the genetic counseling.Thus,in order to provide references for clinical research of these two chromosome aberrations,we will demonstrate the latest research progresses of mechanism,pathogenicity,prenatal diagnosis and genetic counseling of these two chromosome abnormalities in this review.

关 键 词：染色体畸变 嵌合体 染色体 单亲二体性 遗传咨询 

分 类 号：R71[医药卫生—妇产科学]