Application of Optical Genome Mapping Technology in Detecting Complex Chromosomal Rearrangement

HE Shu-jing; ZHANG Zhi-qiang; HUANG Yi-juan; XU Li-nan; CHEN Yuan-qiu; FANG Cong; REN Zi

doi:10.13471/j.cnki.j.sun.yat-sen.univ(med.sci).2023.0625

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Application of Optical Genome Mapping Technology in Detecting Complex Chromosomal Rearrangement

Preclinic Research | 更新时间：2024-02-19

- Application of Optical Genome Mapping Technology in Detecting Complex Chromosomal Rearrangement
- Journal of Sun Yat-sen University(Medical Sciences) Vol. 44, Issue 6, Pages: 943-948(2023)
- 作者机构：
  
  1.中山大学附属第六医院生殖中心，广东广州 510655
  2.广东省生育力保存工程技术研究中心，广东广州 510655
  3.广州市黄埔区中六生物医学创新研究院，广东广州 510655
  4.中山大学附属第六医院妇产科，广东广州 510655
- 作者简介：
  
  REN Zi； E-mail： renz6@mail.sysu.edu.cn
- 基金信息：
- DOI：10.13471/j.cnki.j.sun.yat-sen.univ(med.sci).2023.0625
  CLC： R394.3
- Published：20 November 2023，
  
  Received：07 September 2023，
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何姝婧,张志强,黄乙涓等.光学基因组图谱技术在复杂染色体重排中的应用[J].中山大学学报（医学科学版）,2023,44(06):943-948.

HE Shu-jing,ZHANG Zhi-qiang,HUANG Yi-juan,et al.Application of Optical Genome Mapping Technology in Detecting Complex Chromosomal Rearrangement[J].Journal of Sun Yat-sen University(Medical Sciences),2023,44(06):943-948.
何姝婧,张志强,黄乙涓等.光学基因组图谱技术在复杂染色体重排中的应用[J].中山大学学报（医学科学版）,2023,44(06):943-948. DOI： 10.13471/j.cnki.j.sun.yat-sen.univ(med.sci).2023.0625.

HE Shu-jing,ZHANG Zhi-qiang,HUANG Yi-juan,et al.Application of Optical Genome Mapping Technology in Detecting Complex Chromosomal Rearrangement[J].Journal of Sun Yat-sen University(Medical Sciences),2023,44(06):943-948. DOI： 10.13471/j.cnki.j.sun.yat-sen.univ(med.sci).2023.0625.

摘要

目的

探讨光学基因组图谱技术（OGM）在复杂染色体重排中的应用。

方法

收集2022年1月到2023年6月期间，在中山大学附属第六医院生殖医学中心进行辅助生殖助孕的染色体复杂重排患者5例，对患者进行OGM检测，纳米孔三代测序和胚胎植入前遗传学检测（PGT），并与核型分析、染色体微阵列分析技术（CMA）/基因组拷贝数变异测序（CNV-Seq）的结果分析对比。

结果

相互易位合并插入，相互易位合并倒位，三联易位均能被OGM成功检测，且与纳米孔测序和CMA/CNV-Seq结果相符。OGM成功定位断裂点位置，并与胚胎检测结果验证相符。OGM无法检测到罗氏易位。

结论

OGM因其超长读长，实现了跨越重复区域的检测能力，能够准确定位结构重排，可以有效地辅助复杂染色体重排的临床诊断。

Abstract

Objective

To investigate the application of optical genome mapping （OGM） technology in detecting complex chromosomal rearrangement.

Methods

We recruited five patients who were diagnosed as complex chromosomal rearrangement at the Reproductive Medicine Center of the Sixth Affiliated Hospital of Sun Yat-sen University from January 2022 to June 2023. They underwent OGM， nanopore sequencing and pre-implantation genetic testing （PGT）. The results were compared with the results of karyotype and chromosomal microarray analysis （CMA）/ copy number variation sequencing （CNV-Seq）.

Results

OGM could detect translocation， invert inversion， and triplet translocation， which were consistent with the results of OGM and CMA/ CNV-Seq. But OGM could not detect Robertsonian translocation.

Conclusion

Because of its ultra-long reads， OGM realizes the detection across repetitive regions， and it has great advantages when applied in patients with complex chromosome rearrangement or uncertain karyotype analysis. It can accurately locate breakpoints.

关键词

光学基因组图谱技术纳米孔测序复杂染色体重排胚胎植入前遗传学检测辅助生殖

Keywords

optical genome mappingnanopore sequencingcomplex chromosomal rearrangementpre-implantation genetic testingassisted reproduction

references

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《胚胎植入前遗传学诊断/筛查专家共识》编写组. 胚胎植入前遗传学诊断/筛查技术专家共识［J］. 中华医学遗传学杂志， 2018， 35（2）： 151-155.

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Zhang S， Pei Z， Lei C， et al. Detection of cryptic balanced chromosomal rearrangements using high-resolution optical genome mapping［J］. J Med Genet， 2023， 60： 274-284.

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