Application of Optical Genome Mapping Technology in Detecting Complex Chromosomal Rearrangement
10.13471/j.cnki.j.sun.yat-sen.univ（med.sci）.2023.0625
- VernacularTitle:光学基因组图谱技术在复杂染色体重排中的应用
- Author:
Shu-jing HE
1
;
Zhi-qiang ZHANG
1
;
Yi-juan HUANG
2
;
Li-nan XU
1
;
Yuan-qiu CHEN
2
;
Cong FANG
1
;
Zi REN
1
Author Information
1. Reproductive Center， The Sixth Affiliated Hospital， Sun Yat-sen University， Guangzhou 510655， China
2. Biomedical Innovation Center， The Sixth Affiliated Hospital， Sun Yat-sen University， Guangzhou 510655， China
- Publication Type:Journal Article
- Keywords:
optical genome mapping;
nanopore sequencing;
complex chromosomal rearrangement;
pre-implantation genetic testing;
assisted reproduction
- From:
Journal of Sun Yat-sen University(Medical Sciences)
2023;44(6):943-948
- CountryChina
- Language:Chinese
-
Abstract:
ObjectiveTo investigate the application of optical genome mapping （OGM） technology in detecting complex chromosomal rearrangement. MethodsWe recruited five patients who were diagnosed as complex chromosomal rearrangement at the Reproductive Medicine Center of the Sixth Affiliated Hospital of Sun Yat-sen University from January 2022 to June 2023. They underwent OGM， nanopore sequencing and pre-implantation genetic testing （PGT）. The results were compared with the results of karyotype and chromosomal microarray analysis （CMA）/ copy number variation sequencing （CNV-Seq）. ResultsOGM could detect translocation， invert inversion， and triplet translocation， which were consistent with the results of OGM and CMA/ CNV-Seq. But OGM could not detect Robertsonian translocation. ConclusionBecause of its ultra-long reads， OGM realizes the detection across repetitive regions， and it has great advantages when applied in patients with complex chromosome rearrangement or uncertain karyotype analysis. It can accurately locate breakpoints.
