MaReCs技术在染色体平衡易位携带者胚胎移植中的应用  

Application of mapping allele with resolved carrier status technique in embryo transfer of chromosome balanced translocation carriers

作　　者：宋歌[1] 米冬青[1] 孟繁玉[1] 蒋彦[1] 贾博钦 周晓璞[1] 吴小华[1] SONG Ge;MI Dongqing;MENG Fanyu(The Fourth Hospital of Shijiazhuang City,Hebei,Shijiazhuang 050011,China)

机构地区：[1]河北省石家庄市第四医院,050011

出　　处：《河北医药》2022年第16期2454-2457,共4页Hebei Medical Journal

基　　金：石家庄市科学技术研究与发展计划(编号:191201173)。

摘　　要：目的尝试应用等位基因映射识别胚胎平衡易位携带状态(mapping allele with resolved carrier status,MaReCS)技术筛选出没有发生平衡易位的胚胎,成功有效阻止染色体平衡易位向下一代的传递,为染色体结构异常(易位和倒位)患者进行胚胎植入前遗传学检测技术(perimplation genetic testing,PGT)治疗时提供参考。方法对1例男方平衡易位患者夫妇2个PGT周期的共形成的5枚囊胚进行滋养外胚层活检,活检细胞采用MaReCS技术两步法来有效区分易位携带和正常。结果根据PGT结果,于2019年11月将该例患者2个PGT周期形成的1枚未见染色体拷贝数异常的囊胚进行MaReCS进一步区分是否携带平衡易位,结果此枚未见染色体拷贝数异常的囊胚未携带平衡易位。将该枚未携带易位的囊胚进行解冻复苏移植,获得了临床妊娠;孕期抽取羊水进行产前诊断均未见染色体数目及结构异常,于2020年7月顺利分娩出一健康男婴。结论MaReCs是阻止染色体平衡易位向下一代传递的有效技术。Objective To use the Mapping Allele with Resolved Carrier Status(MaReCS)technique to screen the embryos without balanced translocation,so as to block the transmission of balanced translocations to the next generation,so as to provide reference for the perimplation genetic testing(PGT)in treatment of patients with chromosomal structural abnormalities(translocation and inversion).Methods The trophoblast biopsies were performed in 5 blastocysts formed during two PGT cycles in a husband with balanced translocation.The MaReCS technique was used to distinguish between balanced translocation and normality.Results The results showed that the blastula without abnormal copy number of chromosomes was a non-balanced translocation blastula,which was thawed,resuspended and transplanted in November 2019,then a clinical pregnancy was obtained two weeks later,with the chromosome number and structure in amniotic fluid being normal,and a healthy baby boy was successfully delivered in July 2020.Conclusion MaReCs is an effective technique to prevent the transmission of balanced translocation to the next generation.

关 键 词：染色体结构异常 胚胎植入前遗传学检测技术 染色体易位 等位基因映射识别胚胎平衡易位携带状态(MaReCS)技术 携带者 

分 类 号：R596.1[医药卫生—内科学]