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分析雷因队列中代表澳大利亚普通人群的阅读障碍候选基因。

Analysis of dyslexia candidate genes in the Raine cohort representing the general Australian population.

机构信息

Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, United Kingdom.

出版信息

Genes Brain Behav. 2011 Mar;10(2):158-65. doi: 10.1111/j.1601-183X.2010.00651.x. Epub 2010 Oct 19.

Abstract

Several genes have been suggested as dyslexia candidates. Some of these candidate genes have been recently shown to be associated with literacy measures in sample cohorts derived from the general population. Here, we have conducted an association study in a novel sample derived from the Australian population (the Raine cohort) to further investigate the role of dyslexia candidate genes. We analysed markers, previously reported to be associated with dyslexia, located within the MRPL19/C2ORF3, KIAA0319, DCDC2 and DYX1C1 genes in a sample of 520 individuals and tested them for association with reading and spelling measures. Association signals were detected for several single nucleotide polymorphisms (SNPs) within DYX1C1 with both the reading and spelling tests. The high linkage disequilibrium (LD) we observed across the DYX1C1 gene suggests that the association signal might not be refined by further genetic mapping.

摘要

已经有几个基因被认为是阅读障碍的候选基因。其中一些候选基因最近被证明与来自普通人群的样本队列中的读写能力测量值有关。在这里,我们在澳大利亚人群(Raine 队列)中进行了一项新的样本关联研究,以进一步研究阅读障碍候选基因的作用。我们分析了先前报道与阅读障碍相关的标记,这些标记位于 MRPL19/C2ORF3、KIAA0319、DCDC2 和 DYX1C1 基因内,在 520 名个体的样本中进行了测试,并测试了它们与阅读和拼写测量值的相关性。在 DYX1C1 内的几个单核苷酸多态性 (SNP) 与阅读和拼写测试均存在相关性信号。我们在 DYX1C1 基因中观察到的高度连锁不平衡 (LD) 表明,进一步的遗传图谱可能无法细化关联信号。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2558/3084500/92da2c15da00/gbb0010-0158-f1.jpg

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