Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.
Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.
Trends Genet. 2017 Sep;33(9):642-656. doi: 10.1016/j.tig.2017.07.002. Epub 2017 Aug 3.
Investigation of the biological basis of human speech and language is being transformed by developments in molecular technologies, including high-throughput genotyping and next-generation sequencing of whole genomes. These advances are shedding new light on the genetic architecture underlying language-related disorders (speech apraxia, specific language impairment, developmental dyslexia) as well as that contributing to variation in relevant skills in the general population. We discuss how state-of-the-art methods are uncovering a range of genetic mechanisms, from rare mutations of large effect to common polymorphisms that increase risk in a subtle way, while converging on neurogenetic pathways that are shared between distinct disorders. We consider the future of the field, highlighting the unusual challenges and opportunities associated with studying genomics of language-related traits.
人类言语和语言的生物学基础研究正受到分子技术发展的推动，这些技术包括高通量基因分型和全基因组的下一代测序。这些进展为语言相关障碍（言语失用症、特定语言障碍、发育性阅读障碍）的遗传结构以及对一般人群中相关技能差异的遗传结构提供了新的认识。我们讨论了最先进的方法如何揭示一系列遗传机制，从大效应的罕见突变到以微妙方式增加风险的常见多态性，同时集中在不同障碍之间共享的神经遗传途径上。我们考虑了该领域的未来，强调了研究语言相关特征的基因组学所面临的独特挑战和机遇。
