在荷兰的兄弟姐妹中,阅读障碍易感位点在染色体1p和2p上,而不是6p上。

Carolien G F de Kovel, Barbara Franke, Frans A Hol, Jérémie J P Lebrec, Ben Maassen, Han Brunner, George W Padberg, Jill Platko, David Pauls
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引用次数: 33

摘要

在这项研究中,我们试图证实与发育性阅读障碍和阅读相关的基因座数量性状的遗传联系,这些基因座在以前的研究中已被证明与阅读障碍有关。在我们的108个荷兰核心家庭样本中,分类性状与1p36的关联最强(NPL-LOD = 2.1)。数量性状(单词阅读、非单词阅读和快速命名)的LOD分数在分类性状和第2号染色体的同一位置附近达到峰值。非单词重复与阅读障碍或其他数量性状的表型相关性不大,该性状在11p和15q上出现连锁峰。在这组家庭中没有发现与6p22-23有关联的证据。我们的研究结果与文献数据的比较表明,不同样本的基因座与不同的表型有关。这些特征的相互联系及其与发展性阅读障碍的关系仍然难以捉摸。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Confirmation of dyslexia susceptibility loci on chromosomes 1p and 2p, but not 6p in a Dutch sib-pair collection.

In this study, we attempted to confirm genetic linkage to developmental dyslexia and reading-related quantitative traits of loci that have been shown to be associated with dyslexia in previous studies. In our sample of 108 Dutch nuclear families, the categorical trait showed strongest linkage to 1p36 (NPL-LOD = 2.1). LOD scores for quantitative traits word-reading, non-word reading, and rapid naming peaked near the same location as the categorical trait, as well as on chromosome 2. Non-word repetition showed little phenotypic correlation with dyslexia or with the other quantitative traits, and this trait showed linkage peaks on 11p and 15q. No evidence for linkage to 6p22-23 was found for this set of families. Comparison of our results and literature data shows that loci link to different phenotypes in different samples. The mutual connections of these traits and their relation to developmental dyslexia remain elusive.

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