摘要
目的探索三代单分子实时(single molecule real time,SMRT)测序技术在胚胎植入前遗传学检测(preimplantation genetic testing,PGT)领域阻止染色体平衡易位向子代传递的应用价值。方法2021年1月至2021年6月期间在空军军医大学唐都医院妇产科生殖医学中心利用三代SMRT测序技术,对6对夫妇中染色体平衡易位携带者的外周血全基因组进行测序,鉴定平衡易位断裂点并构建断裂点附近的单体型,然后通过PGT对胚胎染色体非整倍性及结构进行检测,获得完全正常的胚胎进行移植。结果通过全基因组三代SMRT测序检测到了平衡易位断裂点并且精确到单碱基水平;6对参与实验的夫妇通过对移植前的囊胚检测,均明确断裂点位置,最终5对夫妇获得完全正常的胚胎。结论三代SMRT测序技术可在全基因组范围内将携带者的平衡易位断裂点精确至单碱基水平,可应用于PGT领域阻断染色体平衡易位向子代的传递。
Objective To explore the value of single molecule real time(SMRT)sequencing technology applied on preimplantation genetic testing(PGT)field to prevent the transmission of balanced chromosome-translocation to child.Methods We performed whole genome sequencing to carrier of balanced chromosome-translocation among six couples with SMRT sequencing technology to identify the breakpoints and construct haplotype around the breakpoints in peripheral blood,and then choose healthy embryo for implantation after PGT in Center for Reproductive Medicine,Department of Gynecology&Obsterics,Tangdu Hospital,the Air Force Military Medical University from January to June in 2021.Results With SMRT sequencing technology,we successfully identified breakpoint to single base level in six carriers of balanced chromosome-translocation recruited in this study.Finally,five couples recruited in this study obtained healthy embryo for implantation after PGT.Conclusion SMRT sequencing technology can locate the breakpoints of balanced chromosome-translocation at single base level and prevent the transmission of the balanced chromosome-translocation to the offspring when combined with PGT.
作者
王珺
苟兴庆
王茜怡
黄剑磊
张亨德
王晓红
Wang Jun;Gou Xingqing;Wang Xiyi;Huang Jianlei;Zhang Hengde;Wang Xiaohong(Center for Reproductive Medicine,Department of Gynecology&Obsterics,Tangdu Hospital,the Air Force Military Medical University,Xi'an 710038,China)
出处
《中华生殖与避孕杂志》
CAS
CSCD
北大核心
2022年第12期1284-1291,共8页
Chinese Journal of Reproduction and Contraception
基金
唐都医院2021年新技术新业务资助项目(XJSXYW2021009)。
关键词
胚胎植入前遗传学检测
易位
染色体断点
三代单分子实时测序技术
Preimplantation genetic testing
Translocation
Chromosome breakpoints
Single molecule real time sequencing technology
