染色体相互易位携带者胚胎植入前染色体结构重排遗传学检测结果的影响因素分析  

Analysis of influencing factors on results of embryo preimplantation genetic testing for chromosome structural rearrangement in chromosomal reciprocal translocation carriers

作　　者：王珺 张振强 王茜怡 苟兴庆 何玉萍 Jun Wang;Zhenqiang Zhang;Xiyi Wang;Xingqing Gou;Yuping He(Center for Reproductive Medicine,Department of Gynecology&Obsterics,Tangdu Hospital of Air Force Medical University,Xi′an 710038,Shaanxi Province,China)

机构地区：[1]空军军医大学唐都医院妇产科生殖医学中心,西安710038

出　　处：《中华妇幼临床医学杂志（电子版）》2022年第6期652-659,共8页Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition)

基　　金：陕西省科技厅重点研发计划一般项目(2021SF-012)。

摘　　要：目的探讨夫妇(亲代)之一的染色体相互易位携带类型,对其囊胚染色体异常的影响。方法选择2018年6月至2021年6月于空军军医大学唐都医院采取辅助生殖技术(ART)助孕,并进行胚胎植入前染色体结构重排遗传学检测(PGT-SR)的231对夫妇其中之一为染色体相互易位携带者的1091枚囊胚为研究对象。回顾性分析亲代的临床病例资料及其囊胚PGT-SR结果。采用成组t检验及χ2检验,对PGT-SR结果为染色体异常与正常囊胚的亲代(染色体相互易位携带者)临床资料进行比较(单因素分析);采用多因素非条件logistic回归分析,对染色体相互易位携带者的囊胚PGT-SR结果影响因素进行分析。本研究经空军军医大学唐都医院伦理委员会批准(审批文号:K202108-09),所有受试者签署胚胎PGT-SR知情同意书。结果①染色体相互易位携带者的囊胚PGT-SR结果影响因素的单因素分析显示:染色体异常囊胚的亲代为最长和最短易位片段的比值(TSR)≥2及染色体相互易位片段含末端断点的染色体相互易位携带者的比例(76.8%、38.0%),均高于染色体正常囊胚(68.7%、29.1%),并且差异均有统计学意义(χ2=7.67、7.91,P=0.006、0.005)。②多因素非条件logistic回归分析结果:染色体相互易位携带者为女性(OR=1.39,95%CI:1.05~1.85,P=0.021),TSR≥2(OR=1.48,95%CI:1.13~1.94,P=0.005),染色体相互易位片段含末端断点(OR=1.50,95%CI:1.13~2.00,P=0.005),均是染色体相互易位携带者的囊胚PGT-SR结果为染色体异常的独立危险因素。③TSR≥2与TSR<2,以及染色体相互易位片段含末端断点与不含末端断点的染色体相互易位携带者的囊胚PGT-SR结果(染色体拷贝数正常、易位染色体异常、其他染色体异常)构成比比较,差异均有统计学意义(P<0.05)。结论对于夫妇中染色体相互易位携带者为女性,TSR≥2及染色体相互易位片段含末端断点的染色体相互易位携带者,其囊胚染色体异常风Objective To investigate the effects of one of the couples′(parents)chromosomal reciprocal translocation carrier types on blastocyst chromosomal abnormalities.Methods From June 2018 to June 2021,a total of 1091 blastocysts of 231 couples(one of the couple was carrier of chromosomal reciprocal translocation)who were assisted pregnancy by assisted reproductive technology(ART)in Tangdu Hospital of Air Force Medical University,and took embryo preimplantation genetic testing-chromosomal structural rearrangements(PGT-SR)were selected as research subjects.The clinical case data of the parents and their blastocyst PGT-SR results were retrospectively analyzed.Independent-samples t test and chi-square test were used to compare the clinical data of the parents(chromosomal reciprocal translocation carriers)between whose blastocysts with PGT-SR results of chromosomal abnormalities and normal(univariate analysis).The influencing factors on PGT-SR results of blastocysts of chromosomal translocation carriers were analyzed by multivariate unconditional logistic regression analysis.This study was approved by Ethics Committee of Tangdu Hospital of Air Force Medical University(Approval No.K202108-09).The guardians of the subjects signed the informed consents for embryo PGT-SR.Results①Univariate analysis of influencing factors on PGT-SR results of blastocysts of chromosomal translocation carriers showed that:the chromosomal translocation carriers′proportion of parents with chromosome abnormal blastocysts whose ratio of the longest to the shortest translocated segments(TSR)≥2 and chromosomal translocation fragment contained terminal breakpoint(76.8%,38.0%)were higher than those with chromosome normal blastocysts(68.7%,29.1%),and the differences were statistically significant(χ2=7.67,7.91;P=0.006,0.005).②Multivariate unconditional logistic regression analysis showed that:female carriers of chromosomal translocation(OR=1.39,95%CI:1.05-1.85,P=0.021),TSR≥2(OR=1.48,95%CI:1.13-1.94,P=0.005),and chromosomal translocation fragmen

关 键 词：易位 遗传 性别特性 囊胚 减数分裂 染色体断裂点 易位片段最长与最短的比值 易位断点距着丝粒距离最长与最短的比值 植入前染色体结构重排遗传学检测 

分 类 号：R714.8[医药卫生—妇产科学]