扭转痉挛的遗传学研究进展
Genetics in dystonia: an update.
机构信息
Department of Genetics and Genomic Sciences, Ichan School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1498, New York, NY, 10029, USA,
出版信息
Curr Neurol Neurosci Rep. 2013 Dec;13(12):410. doi: 10.1007/s11910-013-0410-z.
The past year has been extremely successful with regard to the genetics of dystonia, with the identification of four new dystonia genes (CIZ1, ANO3, GNAL, and TUBB4A). This progress was primarily achieved because of the application of a new technology, next-generation DNA sequencing, which allows rapid and comprehensive assessment of a patient's genome. In addition, a combination of next-generation and traditional Sanger sequencing has expanded the phenotypic spectrum associated with some of the dystonia plus (ATP1A3) and paroxysmal (PRRT2) loci. This article reviews the newly identified genes and phenotypes and discusses the future applications of next-generation sequencing to dystonia research.
过去一年在扭转痉挛的遗传学方面取得了巨大的成功，已鉴定出四个新的扭转痉挛基因（CIZ1、ANO3、GNAL 和 TUBB4A）。这一进展主要得益于一种新技术——新一代 DNA 测序的应用，该技术可以快速全面地评估患者的基因组。此外，新一代测序和传统的 Sanger 测序的结合，扩大了一些与扭转痉挛伴发（ATP1A3）和发作性（PRRT2）基因相关的表型谱。本文综述了新发现的基因和表型，并讨论了新一代测序在扭转痉挛研究中的未来应用。
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