摘要
目的探讨在胚胎植入前遗传学检测(preimplantation genetic testing,PGT)中,等位基因映射识别技术(mapping allele with resolved carrier status,MaReCs)对于鉴别染色体平衡易位携带者胚胎易位携带状态的价值。方法采用MaReCs技术对25例相互易位和15例罗氏易位携带者的囊胚进行检测,经过遗传咨询后择期移植可移植的囊胚,孕16~20周行羊水穿刺检查胎儿染色体,比较MaReCs检测与羊水检查结果的一致性。结果相互易位组和罗氏易位组囊胚的染色体拷贝数变异(copy number variations,CNVs)的正常率差异无统计学意义(28.6%vs.32.0%,P>0.05);分别有12例(48%)相互易位和8例(53.3%)罗氏易位携带者获得了胚胎易位携带状态的结果。已妊娠的11例羊水穿刺检测结果均与MaReCs结果一致。结论MaReCs是一种区分平衡易位携带者胚胎易位携带状态的可靠方法,可帮助一定比例的携带者选择完全正常的胚胎移植,减少平衡易位向子代的传递。
Objective To assess the value of mapping allele with resolved carrier status(MaReCs)technology for the determination of balanced translocation carrier status for embryos.Methods Blastocysts produced by 25 reciprocal translocation carriers and 15 Robertsonian translocation carriers were detected by MaReCs.After genetic counseling,transplantable blastocysts were selected.Amniocentesis was performed to check fetal chromosomes at 16 to 20 gestational weeks,and the consistency of amniocentesis and MaReCs was determined.Results No significant difference was found in the normal rate for chromosome copy number variations(CNVs)in blastocysts between reciprocal translocation carriers and Robertsonian translocation carriers(28.6%vs.32.0%,P>0.05).For 12(48%)reciprocal translocation carriers and 8(32%)Robertsonian translocation carriers,the status of translocation carrier of embryos was successfully determined.The results of amniocentesis were consistent with that of MaReCs in all 11 pregnancies.Conclusion MaReCs is a reliable method to distinguish the translocation carrier status of embryos of balanced translocation carriers.It can help a certain proportion of balanced translocation carriers to select completely normal embryos while reduce transfer of embryo carrying a balanced translocation.
作者
陈雯
任新玲
贺慧
周一帆
吴黎
Chen Wen;Ren Xinling;He Hui;Zhou Yifan;Wu Li(Reproductive Medicine Center,Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan,Hubei 430030,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2020年第9期924-928,共5页
Chinese Journal of Medical Genetics
基金
国家自然科学基金(81801531)。
关键词
等位基因映射识别技术
拷贝数变异
平衡易位
携带者
Mapping allele with resolved carrier status technology
Copy number variation
Balanced translocation
Carrier
