神经遗传性疾病的遗传诊断策略与问题

Q4 Medicine 中国现代神经疾病杂志 Pub Date : 2017-07-25 DOI:10.3969/CJCNN.V17I7.1625

Xunhua Li, Ding-bang Chen, Chao Wu

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引用次数: 0

摘要

神经遗传性疾病因其复杂的表型而难以诊断。基因检测一直是最终诊断的选择。随着分子诊断技术的进步和更新，特别是新一代测序技术的广泛应用，选择合适的测序方法成为一个新的挑战。本文旨在综述基于临床表型、基因突变特征和基因测序方法的单基因神经遗传疾病遗传诊断的不同策略和问题。DOI: 10.3969 / j.issn.1672-6731.2017.07.002

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Strategies and problems of genetic diagnosis for neurogenetic diseases

Neurogenetic diseases are difficult to diagnose due to complicated phenotypes. Genetic testing is always the option for final diagnosis. With the progress and update of molecular diagnostic techniques, especially widely usage of next - generation sequencing (NGS), choosing proper sequencing methods is a new challenge. This paper aims to review different strategies and problems of genetic diagnosis for monogenic neurogenetic diseases based on clinical phenotypes, gene mutation characteristics and gene sequencing methodology. DOI: 10.3969/j.issn.1672-6731.2017.07.002

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