中山大学学报（医学科学版）2023，Vol.44Issue(6)：943-948,6.
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
摘要
Abstract
[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 consis-tent 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 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Key words
optical genome mapping/nanopore sequencing/complex chromosomal rearrangement/pre-implanta-tion genetic testing/assisted reproduction分类
医药卫生引用本文复制引用
何姝婧,张志强,黄乙涓,徐丽南,陈元球,方丛,任姿..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(6):943-948,6.基金项目
国家重点研发计划重点专项(2022YFC2703200) （2022YFC2703200）
国家自然科学基金(82271651) （82271651）
