脊髓性肌萎缩症基因检测的最新进展

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2023-11-10 DOI:10.2174/0113892029273388231023072050

Yulin Zhou, Yu Jiang

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引用次数: 0

摘要

摘要:脊髓性肌萎缩症(SMA)是世界范围内最常见的遗传性疾病之一，基因检测在其诊断和预防中起着关键作用。在过去的十年中，SMA基因检测的新方法不断涌现，与传统方法一起，在一定程度上影响了临床实践模式。针对不同的应用场景，选择合适的基因检测技术已成为优化SMA临床途径的重点。本文综述了SMA基因检测的最新技术创新，包括MassArray®、数字PCR (dPCR)、下一代测序(NGS)和第三代测序(TGS)。探讨了在SMA三级预防中合理选择不同技术策略的实施建议。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Current Advances in Genetic Testing for Spinal Muscular Atrophy

Abstract: pinal muscular atrophy (SMA) is one of the most common genetic disorders worldwide, and genetic testing plays a key role in its diagnosis and prevention. The last decade has seen a continuous flow of new methods for SMA genetic testing that, along with traditional approaches, have affected clinical practice patterns to some degree. Targeting different application scenarios and selecting the appropriate technique for genetic testing have become priorities for optimizing the clinical pathway for SMA. In this review, we summarize the latest technological innovations in genetic testing for SMA, including MassArray®, digital PCR (dPCR), next-generation sequencing (NGS), and third-generation sequencing (TGS). Implementation recommendations for rationally choosing different technical strategies in the tertiary prevention of SMA are also explored.

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来源期刊

Accounts of Chemical Research 化学-化学综合

CiteScore

31.40

自引率

1.10%

发文量

312

审稿时长

2 months

期刊介绍： Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.