Application of optical genome mapping technology for the detection of chromosomal structural variations
10.3760/cma.j.cn511374-20230107-00013
- VernacularTitle:光学基因组图谱技术在染色体结构变异检测中的应用
- Author:
Zhiqiang ZHANG
1
;
Shujing HE
;
Xiaolan LI
;
Kuan CHENG
;
Yue′e WEI
;
Zi REN
Author Information
1. 中山大学附属第六医院生殖医学中心，广东省生育力保存工程技术研究中心，广州 510655
- Keywords:
Genomic structural variation;
Optical genome mapping;
Balanced translocation;
Insertional translocation;
Ring chromosome
- From:
Chinese Journal of Medical Genetics
2024;41(3):257-265
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To assess the value of optical genome mapping (OGM) for the detection of chromosomal structural abnormalities including ring chromosomes, balanced translocations, and insertional translocations.Methods:Clinical data of four patients who underwent pre-implantation genetic testing concurrently with OGM and chromosomal microarray analysis at the Center of Reproductive Medicine of the Sixth Affiliated Hospital of Sun Yat-sen University from January to October 2022 due to chromosomal structural abnormalities were selected as the study subjects. Some of the results were verified by multi-color fluorescence in situ hybridization. Results:The OGM has successfully detected a balanced translocation and fine mapped the breakpoints in a patient. Among two patients with insertional translocations, OGM has provided more refined breakpoint locations than karyotyping analysis in a patient who had chromosome 3 inserted into chromosome 6 and determined the direction of the inserted fragment. However, OGM has failed to detect the chromosomal abnormalit in a patient with chromosome 8 inserted into the Y chromosome. It has also failed to detect circular signals in a patient with ring chromosome mosaicism.Conclusion:OGM has successfully detected chromosomal structural variations in the four patients and provided assistance for their diagnosis.
