基因组光学图谱技术和纳米孔测序技术检测染色体相互易位的差异分析

Optical genomic mapping vs nanopore sequencing in detecting reciprocal translocation of chromosomes

目的探讨基因组光学图谱技术(Bionano)和纳米孔测序技术(Nanopore)分析染色体相互易位的差异。方法在外周血细胞染色体核型和荧光原位杂交结果的基础上,利用基因组光学图谱技术和纳米孔测序技术检测4例染色体相互易位的断裂区域及其断裂点情况。结果基因组光学图谱技术能够分析出易位染色体和粗略断裂位点;纳米孔测序技术能够分析出易位染色体和精确断裂位点以及影响的基因。结论两种技术检测染色体相互易位存在差异性,临床医生和患者可根据需求选择不同的检测方案。

Objective To investigate the difference between optical genomic mapping(Bionano)and nanopore sequencing(Nanopore)in detection of reciprocal translocation of chromosomes.Methods Further to chromosome karyotyping and fluorescence in situ hybridization of peripheral blood cells,optical genomic mapping and nanopore sequencing were used to detect the regions of breakage and break points in four cases of reciprocal translocation of chromosomes.Results Optical genomic mapping was able to identify the chromosomes with translocation and roughly the break sites,while nanopore sequencing was able to identify the chromosomes with translocation,the precise break sites,and affected genes.Conclusion Differences exist between the two techniques in detecting translocation of chromosomes.Clinicians and patients may therefore choose the detection options according to individual needs.