光学基因组图谱技术及其在遗传病诊断中的应用  

Optical genome mapping technology and its applications in genetic disease diagnosis

作　　者：张建林[1] 张俊荣[1] 苏敏[1] 张玉泉[1] Zhang Jianlin;Zhang Junrong;Su Min;Zhang Yuquan(Department of Obstetrics and Gynecology,the Affiliated Hospital of Nantong University,Nantong,Jiangsu 226001,China)

机构地区：[1]南通大学附属医院妇产科,南通226001

出　　处：《中华医学遗传学杂志》2024年第12期1496-1502,共7页Chinese Journal of Medical Genetics

基　　金：江苏省妇幼健康科研项目(F202053);南通市社会民生科技计划项目(MS2023020)。

摘　　要：光学基因组图谱(OGM)是一种基于物理图谱的新兴遗传病检测技术,可在全基因组范围进行染色体数目异常、基因组拷贝数变异(CNV)和结构变异(SV)检测。近年多项研究证明,作为新一代细胞基因组学检测技术,OGM分辨率高,较传统的遗传学检测技术具有更强的发现基因组变异的能力。笔者拟系统阐述OGM技术的原理、特点、优势与局限性,以及在遗传病诊断中的应用,旨在帮助临床医师提高对该技术的认识。Optical genome mapping(OGM)is an emerging technology for the detection of genetic diseases based on physical mapping,which can detect numerical chromosomal abnormalities,copy number variation(CNV)and structural variation(SV)on a genome-wide scale.In recent years,a number of studies have proved that OGM,as a new generation of cytogenomic technique,has higher resolution and stronger ability to discover genomic variants compared with conventional genetic techniques.This article has systematically reviewed the principles,characteristics,advantages and limitations of OGM technology,and its clinical applications in the diagnosis of genetic disorders.

关 键 词：光学基因组图谱 遗传性疾病 基因诊断 基因组学 染色体畸变 染色体结构变异 拷贝数变异 染色体断裂点 

分 类 号：R596[医药卫生—内科学] R440[医药卫生—临床医学]