[1]张志远,郑 直,田晓怡.融合基因检测方法的最新研究进展[J].现代检验医学杂志,2024,39(05):205-212.[doi:10.3969/j.issn.1671-7414.2024.05.038]
　ZHANG Zhiyuan,ZHENG Zhi,TIAN Xiaoyi.Advancements in Latest Fusion Gene Detection Methods: A Comprehensive Review[J].Journal of Modern Laboratory Medicine,2024,39(05):205-212.[doi:10.3969/j.issn.1671-7414.2024.05.038]
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融合基因检测方法的最新研究进展()
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《现代检验医学杂志》[ISSN:/CN:]

卷:
第39卷
期数:
2024年05期
页码:
205-212
栏目:
综述
出版日期:
2024-09-15

文章信息/Info

Title:
Advancements in Latest Fusion Gene Detection Methods: A Comprehensive Review
文章编号:
1671-7414（2024）05-200-08
作者:
张志远1; 郑 直1; 田晓怡2
（1. 中国医学科学院基础医学研究所/ 北京协和医学院基础学院生物化学与分子生物学系，北京 100005；2. 国家儿童医学中心/ 首都医科大学附属北京儿童医院检验中心，北京 100045）
Author(s):
ZHANG Zhiyuan1;  ZHENG Zhi1;  TIAN Xiaoyi2
（1. Department of Molecular Biology and Biochemistry, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences/School of Basic Medicine, Peking Union Medical College, Beijing 100005, China; 2. Center of Clinical Laboratory, Beijing Childre
关键词:
融合基因; 下一代测序; 液体活检
分类号:
Q781
DOI:
10.3969/j.issn.1671-7414.2024.05.038
文献标志码:
A
摘要:
融合基因指的是由两个或多个基因片段在基因组中发生重组而形成的新序列，其在肿瘤发生、发展过程中具有重要的生物学功能和临床意义。融合基因的检测可以为肿瘤的早期诊断、风险分层和靶向治疗等提供重要指导。传统的融合基因检测方法占据主导地位，但存在灵敏度偏低，成本偏高或技术复杂，难以大规模应用的局限。随着生物新技术的迅猛发展，一系列全新的融合基因检测方法逐渐涌现，为融合基因检测提供新的思路。该文综述了融合基因检测的传统方法以及近年来发展的测序技术，旨在为融合基因的检测提供思路，为相关疾病的诊断及精准治疗提供指导。
Abstract:
Fusion genes are defined as novel sequences formed through the recombination of two or more gene fragments within the genome, which play significant biological functions and clinical significance in tumorigenesis and development. The detection of fusion genes can provide important guidance for early diagnosis, risk stratification and targeted therapy of tumors. Traditional fusion gene detection methods dominate, but there are several limitations such as low sensitivity, high cost and complex technology, making them difficult to apply on widespread application. With the rapid advancements of new biotechnology, a series of new fusion gene detection methods are gradually emerging, providing new alternatives for fusion gene detection. This article reviews traditional fusion gene detection methods and the sequencing technologies developed in recent years, aiming to provide ideas for the detection of fusion genes and guidance for the diagnosis and precise treatment of related diseases.

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备注/Memo

备注/Memo:
基金项目： 国家自然科学基金青年科学基金项目（82202630）。
作者简介：张志远（2000-），男，在读硕士生，研究方向：生物化学与分子生物学，E-mail：1810115127@bjmu.edu.com。
通讯作者： 田晓怡（1985-），女，博士，副主任技师，主要从事临床检验诊断学研究，E-mail：xiaoyikkxl@163.com。
郑 直（1966-），男，博士，教授，主要从事生物化学与分子生物学研究，E-mail：zhizheng100@126.com。
更新日期/Last Update: 2024-09-15