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Efficacy and initial clinical evaluation of optical genome mapping in the diagnosis of structural variations / 中华预防医学杂志
Chinese Journal of Preventive Medicine ; (12): 632-639, 2022.
Article in Chinese | WPRIM | ID: wpr-935336
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.
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Full text: Available Index: WPRIM (Western Pacific) Main subject: Translocation, Genetic / Retrospective Studies / Chromosome Mapping / In Situ Hybridization, Fluorescence / Karyotyping Type of study: Diagnostic study / Observational study Limits: Female / Humans / Pregnancy Language: Chinese Journal: Chinese Journal of Preventive Medicine Year: 2022 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Translocation, Genetic / Retrospective Studies / Chromosome Mapping / In Situ Hybridization, Fluorescence / Karyotyping Type of study: Diagnostic study / Observational study Limits: Female / Humans / Pregnancy Language: Chinese Journal: Chinese Journal of Preventive Medicine Year: 2022 Type: Article