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利用遗传学理解阅读障碍。

Using genetics to understand dyslexia.

机构信息

University of Denver, Denver, Colorado.

出版信息

Ann Dyslexia. 1989 Jan;39(1):81-93. doi: 10.1007/BF02656902.

DOI:10.1007/BF02656902
PMID:24233473
Abstract

This paper reviews what is currently known about the genetics of dyslexia and shows how genetic studies can help clarify which symptoms are primary and which are secondary in dyslexia. On the genetic side, current evidence supports the view that dyslexia is familial, substantially heritable, and heterogeneous in its genetic mechanisms. At least some forms of familial dyslexia appear to be autosomal dominant, with linkage studies supporting both a major locus on chromosome 15 and genetic heterogeneity. On the symptom side, current evidence supports the view that the primary symptom in dyslexia is a deficit in the phonological coding of written language. This primary symptom likewise appears to be heritable. Recent evidence suggests that the heritable precursor to this written language deficit is a spoken language deficit in the skill of phoneme segmentation and awareness.

摘要

本文回顾了目前已知的阅读障碍的遗传学,并展示了遗传研究如何帮助阐明阅读障碍中的哪些症状是主要的,哪些是次要的。在遗传方面,现有证据支持阅读障碍具有家族性、高度遗传性和遗传机制异质性的观点。至少某些形式的家族性阅读障碍似乎是常染色体显性遗传,连锁研究支持 15 号染色体上的一个主要基因座和遗传异质性。在症状方面,现有证据支持阅读障碍的主要症状是书面语言的语音编码缺陷。这个主要症状似乎也是可遗传的。最近的证据表明,这种书面语言缺陷的可遗传前身为语音分段和意识技能的口语缺陷。

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