遗传学与心理学的交叉领域：发育性阅读障碍的启示
The interface between genetics and psychology: lessons from developmental dyslexia.
作者信息
Bishop D V M
机构信息
Department of Experimental Psychology, University of Oxford, South Parks Road, Oxford OX1 3UD, UK
出版信息
Proc Biol Sci. 2015 May 7;282(1806):20143139. doi: 10.1098/rspb.2014.3139.
Developmental dyslexia runs in families, and twin studies have confirmed that there is a substantial genetic contribution to poor reading. The way in which discoveries in molecular genetics are reported can be misleading, encouraging us to think that there are specific genes that might be used to screen for disorder. However, dyslexia is not a classic Mendelian disorder that is caused by a mutation in a single gene. Rather, like many other common disorders, it appears to involve combined effects of many genes and environmental factors, each of which has a small influence, possibly supplemented by rare variants that have larger effects but apply to only a minority of cases. Furthermore, to see clearer relationships between genotype and phenotype, we may need to move beyond the clinical category of dyslexia to look at underlying cognitive deficits that may be implicated in other neurodevelopmental disorders.
发育性阅读障碍具有家族遗传性，双胞胎研究证实，阅读能力差有很大的遗传因素。分子遗传学发现的报道方式可能会产生误导，使我们认为存在可用于筛查该疾病的特定基因。然而，阅读障碍并非由单个基因突变引起的典型孟德尔疾病。相反，与许多其他常见疾病一样，它似乎涉及多个基因和环境因素的综合作用，每个因素的影响都很小，可能还存在少数具有较大影响但仅适用于少数病例的罕见变异。此外，为了更清楚地了解基因型与表型之间的关系，我们可能需要超越阅读障碍的临床范畴，去研究可能与其他神经发育障碍有关的潜在认知缺陷。
Zotero 插件