Efficacy and initial clinical evaluation of optical genome mapping in the diagnosis of structural variations.
10.3760/cma.j.cn112150-20220212-00131
- VernacularTitle:光学基因组图谱技术在染色体结构变异检出的效能及初步应用评估
- Author:
Na HAO
1
;
Jing ZHOU
1
;
Meng Meng LI
1
;
Wen Bo LUO
1
;
Han Zhe ZHANG
1
;
Qing Wei QI
1
;
Yu Lin JIANG
1
;
Xi Ya ZHOU
1
;
Hong Bo YANG
2
;
Shi CHEN
2
;
Hui PAN
2
;
Hui Juan ZHU
2
;
Jun Tao LIU
1
Author Information
1. Department of Obstetrics and Gynecology, Chinese Academy of Medical Sciences & Peking Union Medical College, National Clinical Research Center for Obstetric & Gynecologic Diseases, Beijing 100730, China.
2. Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, State Key Laboratory of Complex Severe and Rare Diseases, Chinese Academy of Medical Science & Peking Union Medical College, Beijing 100730, China.
- Publication Type:Journal Article
- MeSH:
Chromosome Mapping;
Female;
Humans;
In Situ Hybridization, Fluorescence;
Karyotyping;
Pregnancy;
Retrospective Studies;
Translocation, Genetic
- From:
Chinese Journal of Preventive Medicine
2022;56(5):632-639
- CountryChina
- Language:Chinese
-
Abstract:
To investigate the efficacy and value of optical genome mapping (OGM) in detecting chromosomal structural variations. In a clinical study about high-precision analysis of genomic structural variation for complex genetic diseases, a retrospective study was performed on the cases with karyotyping at the department of Obstetrics and Gynecology, and Endocrinology of Peking Union Medical College Hospital from January to December 2021. Ten cases with abnormal karyotype was detected by OGM. Partial cases were verified by fluorescence in situ hybridization (FISH), SNP array or CNV-seq. Results of ten cases, nine were detected with abnormality by OGM, including unbalanced chromosomal rearrangements (n=3), translocation (n=5) and paracentric inversion (n=1), and the results were in concordance with other standard assays. However, one case with breakpoint and reconnected at centromere has not been detected. In conclusion, ten samples were comprehensively analyzed by karyotyping, FISH, SNP array or CNV-seq, and OGM, and results demonstrated that optical genome mapping as a new technology can not only detect unbalanced rearrangements such as copy number variants as well as balanced translocations and inversions, but more importantly, it can refine breakpoints and orientation of duplicated segments or insertions. So it can contribute to the diagnosis of genetic diseases and prevent birth defect. However, the current technology is not yet capable of detecting breakpoints of balanced structural variations lying within unmapped regions.
