Application of single molecule real time sequencing technology in balanced chromosome-translocation breakpoints identification in 6 cases
10.3760/cma.j.cn101441-20210828-00378
- VernacularTitle:SMRT测序技术在6例平衡易位断裂点检测中的应用
- Author:
Jun WANG
1
;
Xingqing GOU
1
;
Xiyi WANG
1
;
Jianlei HUANG
1
;
Hengde ZHANG
1
;
Xiaohong WANG
1
Author Information
1. 空军军医大学唐都医院妇产科生殖医学中心，西安 710038
- Publication Type:Journal Article
- Keywords:
Preimplantation genetic testing;
Translocation;
Chromosome breakpoints;
Single molecule real time sequencing technology
- From:
Chinese Journal of Reproduction and Contraception
2022;42(12):1284-1291
- CountryChina
- Language:Chinese
-
Abstract:
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.
