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特定阅读障碍的遗传学

The genetics of specific reading disability.

作者信息

Finucci J M, Guthrie J T, Childs A L, Abbey H, Childs B

出版信息

Ann Hum Genet. 1976 Jul;40(1):1-23. doi: 10.1111/j.1469-1809.1976.tb00161.x.

DOI:10.1111/j.1469-1809.1976.tb00161.x
PMID:962317
Abstract

Members of the immediate families of twenty children with specific reading disability were examined to determine the prevalence of reading disability within the families. A procedure was developed for identifying adults who may have compensated for a disability manifested more clearly in childhood. Forty-five percent of 75 first-degree relatives of the parents were affected and there was a significantly greater number of affected male relatives than females. No single mode of genetic transmission is evident after inspection of the pedigrees. It is suggested that the disorder is genetically heterogeneous and that subgroups of disabled readers should be looked for.

摘要

对20名患有特定阅读障碍儿童的直系家庭成员进行了检查,以确定家庭中阅读障碍的患病率。开发了一种程序来识别那些可能已经弥补了在童年时期更明显表现出的残疾的成年人。父母的75名一级亲属中有45%受到影响,受影响的男性亲属数量明显多于女性。检查家谱后,没有明显的单一遗传传递模式。有人认为,这种疾病在遗传上是异质性的,应该寻找阅读障碍者的亚组。

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引用本文的文献

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A follow-up study of dyslexic boys.对诵读困难男孩的后续研究。
Ann Dyslexia. 1985 Jan;35(1):117-36. doi: 10.1007/BF02659183.
2
Familial dyslexia: genetic and medical findings in eleven three-generation families.家族性失读症:十一个三代家系的遗传学和医学研究结果。
Ann Dyslexia. 1993 Dec;43(1):44-60. doi: 10.1007/BF02928173.
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An examination of familial resemblance among subgroups of dyslexics.探讨阅读障碍亚组人群的家族相似性。
Ann Dyslexia. 1990 Jan;40(1):180-91. doi: 10.1007/BF02648148.
4
Using genetics to understand dyslexia.利用遗传学理解阅读障碍。
Ann Dyslexia. 1989 Jan;39(1):81-93. doi: 10.1007/BF02656902.
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A family-based association analysis and meta-analysis of the reading disabilities candidate gene DYX1C1.基于家系的阅读障碍候选基因 DYX1C1 的关联分析与荟萃分析。
Am J Med Genet B Neuropsychiatr Genet. 2013 Mar;162B(2):146-56. doi: 10.1002/ajmg.b.32123. Epub 2013 Jan 22.
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Meta-analysis of the association between DCDC2 polymorphisms and risk of dyslexia.DCDC2 多态性与阅读障碍风险的关联的荟萃分析。
Mol Neurobiol. 2013 Feb;47(1):435-42. doi: 10.1007/s12035-012-8381-7. Epub 2012 Dec 11.
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Progress towards a cellular neurobiology of reading disability.阅读障碍的细胞神经生物学研究进展。
Neurobiol Dis. 2010 May;38(2):173-80. doi: 10.1016/j.nbd.2009.06.019. Epub 2009 Jul 17.
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A common variant associated with dyslexia reduces expression of the KIAA0319 gene.一种与诵读困难相关的常见变异会降低KIAA0319基因的表达。
PLoS Genet. 2009 Mar;5(3):e1000436. doi: 10.1371/journal.pgen.1000436. Epub 2009 Mar 27.
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The KIAA0319-like (KIAA0319L) gene on chromosome 1p34 as a candidate for reading disabilities.位于1号染色体1p34区域的类KIAA0319(KIAA0319L)基因作为阅读障碍的一个候选基因。
J Neurogenet. 2008;22(4):295-313. doi: 10.1080/01677060802354328.
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DCDC2 is associated with reading disability and modulates neuronal development in the brain.双皮质素基因2(DCDC2)与阅读障碍相关,并调节大脑中的神经元发育。
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