提升罕见遗传疾病病因阳性检出率的思考及应用

doi:10.3969/j.issn.1673-8640.2025.02.002

检验医学 ›› 2025, Vol. 40 ›› Issue (2): 109-113.DOI: 10.3969/j.issn.1673-8640.2025.02.002

• 精准医疗时代遗传性疾病基因检测专题 • 上一篇下一篇

提升罕见遗传疾病病因阳性检出率的思考及应用

马端

复旦大学代谢分子医学教育部重点实验室复旦大学出生缺陷研究中心复旦大学医学遗传研究院，上海 200032

收稿日期:2024-12-20 修回日期:2025-01-06 出版日期:2025-02-28 发布日期:2025-03-07
作者简介:马端，男，1963年生，博士，教授，主要从事遗传病的发病机制、基因诊断和基因治疗研究。

Consideration and application of improving the positive detection rate of rare genetic disorders

MA Duan

Key Laboratory of Metabolic and Molecular Medicine，Birth Defects Research Center，Institute of Medical Genetics，Fudan University，Shanghai 200032，China

Received:2024-12-20 Revised:2025-01-06 Online:2025-02-28 Published:2025-03-07

摘要/Abstract

摘要：

约有80%的罕见病与基因变异有关。基因测序是发现基因变异的主要方法，但目前的基因变异阳性检出率平均不到40%，难以满足临床需求。文章从基因编码区、非编码区、DNA甲基化、检测后分析与基因重分析等方面将基本概念和最新研究进展进行整合，介绍提高变异基因检出率的思路和方法，以期对临床基因检测有所裨益。

关键词: 罕见病, 遗传病, 基因检测, 阳性率

Abstract:

Approximately 80% of rare disorders are associated with genetic variations. Although gene sequencing has emerged as the primary approach for identifying genetic variations，the current average positive detection rate remains below 40%，falling short of clinical requirements. This review aims to improve the detection rate of mutant genes by integrating fundamental concepts and recent advancements in several key areas，such as gene coding regions，non-coding regions，DNA methylation，post-detection analysis and gene reanalysis. It aims to propose strategies and methodologies that may contribute to more effective clinical gene detection.

Key words: Rare disorder, Genetic disorder, Genetic testing, Positive rate

中图分类号:

R446.5

马端. 提升罕见遗传疾病病因阳性检出率的思考及应用[J]. 检验医学, 2025, 40(2): 109-113.

MA Duan. Consideration and application of improving the positive detection rate of rare genetic disorders[J]. Laboratory Medicine, 2025, 40(2): 109-113.

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参考文献 15

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提升罕见遗传疾病病因阳性检出率的思考及应用

Consideration and application of improving the positive detection rate of rare genetic disorders

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