基因组光学图谱技术在疾病诊断中的应用与研究  

Application and research of genomic optical mapping technology in disease diagnosis

作　　者：权静 肖艳群 卢大儒[2] 鲍芸 Jing Quan;Yanqun Xiao;Daru Lu;Yun Bao(Shanghai Clinical Laboratory Center,Shanghai 200126,China;School of Life Sciences,Fudan University,Shanghai 200438,China)

机构地区：[1]上海市临床检验中心,上海200126 [2]复旦大学生命科学学院,上海200438

出　　处：《遗传》2025年第4期428-436,共9页Hereditas(Beijing)

基　　金：国家重点研发专项课题(编号:2023YFC2705602);上海市临床检验中心自选课题(编号:2023ZXKT-02);上海市卫生健康委员会卫生行业临床研究专项(编号:202240271);上海市“医苑新星”青年医学人才培养资助计划(编号:2022-65)资助。

摘　　要：随着基因组研究的不断深入,越来越多的研究发现结构变异(structural variantions,SVs)在人类进化及疾病发生发展中发挥着重要作用,由此SVs也引起了临床研究的广泛关注。近年来,基因组光学图谱技术(optical genome mapping,OGM)作为一种高分辨率、超长读长、自动化的新型非测序基因检测技术凸显了在SVs研究中的优势。与核型(karotyping)、荧光原位杂交(fluorescence in situ hybridization,FISH)、染色体微阵列分析(chromosomal microarray analysis,CMA)及高通量测序技术相比,OGM可一次性检测全基因组范围内的结构和数目异常,包括染色体非整倍体、插入、缺失、重复、倒位、平衡易位以及复杂结构变异等,且OGM检测分辨率高至500 bp,因其分辨率高和分析片段长度长的检测特性,又被称为下一代细胞遗传学技术,对基因组结构变异检测具有重大应用价值。本文主要对OGM检测方法及其在疾病相关SVs诊断中的应用研究进行了综述,旨在为SVs在疾病诊断领域中的研究提供参考和借鉴。In the continuous progression of genomic research,an increasing number of investigations have revealed that structural variations(SVs)hold a vital role in human evolution and the pathogenesis of diseases.Consequently,SVs have attracted extensive attention within the realm of clinical research.In recent years,optical genome mapping(OGM),which represents a high-resolution,ultra-long-read,automated,non-sequencing genomic detection technique,has exhibited remarkable advantages in the exploration of structural variations.When compared with karyotyping,fluorescence in situ hybridization(FISH),chromosomal microarray analysis(CMA),and high-throughput sequencing technologies,OGM is capable of detecting structural and numerical aberrations throughout the entire genome in a single assay.These encompass aneuploidy,insertions,deletions,duplications,inversions,balanced translocations,and complex structural variations.With a detection resolution reaching as high as 500 bp,OGM is alternatively designated as the next-generation cytogenetic technology due to its high-resolution and long-fragment analysis capabilities.This endows it with substantial practical value in the detection of genomic structural variations.In this review,we comprehensively summarize the application of OGM methods in the detection of disease-related SVs,with the intention of providing valuable references and profound insights for SVs research,especially in the domain of disease diagnosis.

关 键 词：结构变异 基因组光学图谱 疾病诊断应用 

分 类 号：R446.1[医药卫生—诊断学]