光学基因组图谱技术在复杂染色体重排中的应用

Application of Optical Genome Mapping Technology in Detecting Complex Chromosomal Rearrangement

【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。

【Objective】To investigate the application of optical genome mapping(OGM)technology in detecting com⁃plex chromosomal rearrangement.【Methods】We recruited five patients who were diagnosed as complex chromosomal rear⁃rangement 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 sequenc⁃ing(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】Be⁃cause of its ultra-long reads,OGM realizes the detection across repetitive regions,and it has great advantages when ap plied in patients with complex chromosome rearrangement or uncertain karyotype analysis.It can accurately locate breakpoints.