染色体平衡易位影响基因组稳定性的临床研究  

Clinical effect of chromosome balanced translocation study of the effect on genomic stability

作　　者：高明 王丽娟[1,2,3,4,5,6,7] 邹洋 解洪强[1,2,3,4,5,6,7] 刘晓伟[1,2,3,4,5,6,7] 黄色新 高媛 Gao Ming;Wang Lijuan;Zou Yang;Xie Hongqiang;Liu Xiaowei;Huang Sexin;Gao Yuan(Center for Reproductive Medicine,Shandong University,Jinan 250012,Shandong,China;Key Laboratory of Reproductive Endocrinology of Ministry of Education,Shandong University,Jinan 250012,Shandong,China;Shandong Key Laboratory of Reproductive Medicine,Jinan 250012,Shandong,China;Shandong Provincial Clinical Research Center for Reproductive Health,Jinan 250012,Shandong,China;Shandong Technology Innovation Center for Reproductive Health,Jinan 250012,Shandong,China;Shandong Key Laboratory of Reproductive Medicine,Shandong Provincial Hospital Affiliated to Shandong First Medical University,Jinan 250012,Shandong,China;National Research Center for Assisted Reproductive Technology and Reproductive Genetics,Shandong University,Jinan 250012,Shandong,China)

机构地区：[1]山东大学生殖医学研究中心(山东大学附属生殖医院),山东济南250012 [2]生殖内分泌教育部重点实验室(山东大学),山东济南250012 [3]山东省生殖医学重点实验室,山东济南250012 [4]山东省生殖健康临床医学研究中心,山东济南250012 [5]山东省生殖健康技术创新中心,山东济南250012 [6]山东第一医科大学附属山东省立医院生殖医学重点实验室,山东济南250012 [7]国家辅助生殖与优生工程技术研究中心,山东济南250012

出　　处：《生物医学转化》2022年第4期79-84,共6页Biomedical transformation

基　　金：国家重点研发计划项目(2022YFC2703200,2021YFC2700600,2021YFC2700500)。

摘　　要：目的探索染色体平衡易位是否影响基因组稳定性。方法利用回顾性分析将2019年1月至2020年12月在山东大学附属生殖医院行胚胎植入前染色体结构重排检测患者分成两组,实验组为染色体平衡易位携带者来源的异常染色体,对照组为平衡易位携带者的配偶来源的异常染色体,通过单体型分析确认异常胚胎中非易位相关异常染色体的双亲来源,探索平衡易位是否会引起更多染色体异常的发生,从而明确平衡易位对于基因组稳定性的影响。结果非易位相关染色体片段异常亲本来源分析结果显示,实验组显著高于对照组,即平衡易位携带者来源的片段异常显著高于正常核型来源的片段异常,对于整条染色体异常和嵌合染色体异常,两组无显著性差异。结论在减数分裂过程中,染色体平衡易位可能是导致染色体片段异常增加的因素之一,最终影响基因组的稳定性。Objective To explore the effect of chromosome balanced translocation on genomic stability.Methods Abnormal embryos from patients with preimplantation genetic testing for structural rearrangements(PGTSR)indication between January 2019 and December 2020 in Reproductive Hospital Affiliated of Shandong University were divided into two groups.The experimental group was the abnormal chromosome derived from the carriers of the balanced translocation,and the control group was the abnormal chromosome derived from the spouse of the balanced translocation carriers.The parental origin of abnormal chromosomes was identified by haploid analysis to explore the effect of balanced translocation on genomic stability.Results The results of parental origin of non-translocation related abnormal chromosomal fragments showed the experimental group was significantly higher than the control group.As for the whole and mosaic chromosomal abnormality,there was no significant difference between the two groups.Conclusion During meiosis,balanced translocation could affect genome stability by increasing abnormal chromosomal fragments.

关 键 词：平衡易位 基因组稳定性 胚胎植入前染色体结构重排检测 双亲来源 胚胎植入前基因单体型分析 

分 类 号：R715.5[医药卫生—妇产科学]