Identification of complex and cryptic chromosomal rearrangements by optical genome mapping.

IF 1.3 4区生物学 Q4 GENETICS & HEREDITY Molecular Cytogenetics Pub Date : 2023-04-26 DOI:10.1186/s13039-023-00636-2

Shanshan Shi, Peizhi Huang, Ruiling Yan, Ruiman Li

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Abstract

Background: Optical genome mapping (OGM) has developed into a highly promising method for detecting structural variants (SVs) in human genomes. Complex chromosomal rearrangements (CCRs) and cryptic translocations are rare events that are considered difficult to detect by routine cytogenetic methods. In this study, OGM was applied to delineate the precise chromosomal rearrangements in three cases with uncertain or unconfirmed CCRs detected by conventional karyotyping and one case with a cryptic translocation suggested by fetal chromosomal microarray analysis (CMA).

Results: In the three cases with CCRs, OGM not only confirmed or revised the original karyotyping results but also refined the precise chromosomal structures. In the case with a suspected translocation not detected by karyotyping, OGM efficiently identified the cryptic translocation and defined the genomic breakpoints with relatively high accuracy.

Conclusions: Our study confirmed OGM as a robust alternative approach to karyotyping for the detection of chromosomal structural rearrangements, including CCRs and cryptic translocations.

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用光学基因组作图鉴定复杂和隐染色体重排。

背景:光学基因组图谱(OGM)已经发展成为一种非常有前途的检测人类基因组结构变异(SVs)的方法。复杂染色体重排(CCRs)和隐性易位是罕见的事件，被认为难以检测常规细胞遗传学方法。在这项研究中，OGM被应用于描述3例常规核型检测到的不确定或未确诊的ccr病例和1例胎儿染色体微阵列分析(CMA)提示的隐性易位的精确染色体重排。结果:在3例ccr病例中，OGM不仅证实或修正了原始的核型结果，而且细化了精确的染色体结构。在核型分析未检测到可疑易位的情况下，OGM有效地识别了隐性易位，并以相对较高的准确性定义了基因组断点。结论:我们的研究证实了OGM是染色体结构重排检测的一种可靠的替代方法，包括ccr和隐性易位。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular Cytogenetics GENETICS & HEREDITY-

CiteScore

2.60

自引率

7.70%

发文量

审稿时长

>12 weeks

期刊介绍： Molecular Cytogenetics encompasses all aspects of chromosome biology and the application of molecular cytogenetic techniques in all areas of biology and medicine, including structural and functional organization of the chromosome and nucleus, genome variation, expression and evolution, chromosome abnormalities and genomic variations in medical genetics and tumor genetics. Molecular Cytogenetics primarily defines a large set of the techniques that operate either with the entire genome or with specific targeted DNA sequences. Topical areas include, but are not limited to: -Structural and functional organization of chromosome and nucleus- Genome variation, expression and evolution- Animal and plant molecular cytogenetics and genomics- Chromosome abnormalities and genomic variations in clinical genetics- Applications in preimplantation, pre- and post-natal diagnosis- Applications in the central nervous system, cancer and haematology research- Previously unreported applications of molecular cytogenetic techniques- Development of new techniques or significant enhancements to established techniques. This journal is a source for numerous scientists all over the world, who wish to improve or introduce molecular cytogenetic techniques into their practice.