Evaluation of optical genome mapping for detecting chromosomal translocation in clinical cytogenetics.
Evaluation of optical genome mapping for detecting chromosomal translocation in clinical cytogenetics.
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DOI：
10.1002/mgg3.1936
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发表时间：
2022-06
影响因子：
2
通讯作者：
中科院分区：
文献类型：
--
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平衡相互易位是人类最常见的染色体异常之一，可能导致不育，反复妊娠丢失或生育身体或精神异常的孩子。染色体核型分析和FISH是分辨率较低的传统检测方法。近年来发展起来的Bionano光学基因组图谱（OGM）可以用于以更高的分辨率分析染色体异常，为更深入地分析平衡染色体易位提供了可能性。为了评价OGM检测染色体平衡易位的可行性，本研究收集了10例遗传门诊患者，并同时进行了核型分析、FISH、CNV-seq和Bionano OGM检测。结果表明，核型分析、FISH、Bionano OGM均能检出患者的核型，但1例t（Y，19）核型患者OGM未能检出。CNV-seq未发现任何染色体异常。更重要的是，与核型分析和FISH相比，OGM允许将突变定位到基因水平，这对于辅助诊断很重要。本研究表明，OGM可作为一种高灵敏度的染色体平衡易位诊断方法，但在端粒和着丝粒区域，OGM检测突变的准确性和精密度有待于逐步提高。本研究表明，光学作图技术是继染色体核型分析和FISH检测染色体平衡易位之后的一种高准确性的诊断方法。
Balanced reciprocal translocation is one of the most common chromosomal abnormalities in humans that may lead to infertility, recurrent pregnancy loss, or having children with physical or mental abnormalities. Karyotyping and FISH are traditional detection approaches with a low resolution. Bionano optical genome mapping (OGM) developed in recent years can be used to analyze chromosomal abnormalities at a higher resolution, providing the possibility of more in‐depth analyses of balanced chromosome translocations. To evaluate the feasibility of OGM to detect chromosome balanced translocations, 10 genetic outpatients were collected and detected simultaneously by karyotype analysis, FISH, CNV‐seq, and Bionano OGM in this study. The results showed that the karyotypes of the patients were detected by karyotype analysis, FISH, and Bionano OGM, but one patient with karyotype t(Y,19) was not correctly detected by OGM. There were not find any chromosome abnormality by CNV‐seq. More importantly, OGM allowed the location of the mutation to the gene level, which is important for aiding diagnoses, compared to karyotype analysis, and FISH. This study shows that OGM can be a high adjunctive diagnostic method for detecting balanced chromosome translocations, but the accuracy and precision of OGM detecting mutations need to be gradually improved in telomere and centromere regions. Our study shows that optical mapping technique can be a high adjunctive diagnostic method after karyotyping and FISH for detecting balanced chromosome translocations.
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影响因子：
6.4
作者：
Jeffet J;Margalit S;Michaeli Y;Ebenstein Y
通讯作者：
Ebenstein Y
DOI：
10.1016/j.tig.2015.05.010
发表时间：
2015-10
期刊：
Trends in genetics : TIG
影响因子：
--
作者：
Weckselblatt B;Rudd MK
通讯作者：
Rudd MK
影响因子：
56.9
作者：
SCHWARTZ, DC;LI, XJ;WANG, YK
通讯作者：
WANG, YK
影响因子：
9.8
作者：
Wang, Jing;Chen, Lin;Liu, Hongqian
通讯作者：
Liu, Hongqian
影响因子：
9.8
作者：
Mantere, Tuomo;Neveling, Kornelia;El Khattabi, Laila
通讯作者：
El Khattabi, Laila