Investigation of the DCDC2 intron 2 deletion/compound short tandem repeat polymorphism in a large German dyslexia sample.
Investigation of the DCDC2 intron 2 deletion/compound short tandem repeat polymorphism in a large German dyslexia sample.
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DOI：
10.1097/ypg.0b013e3283063a78
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发表时间：
2008-12
影响因子：
0.9
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中科院分区：
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阅读障碍是一种复杂的障碍，表现为学习阅读和拼写的困难，尽管有常规的教学、足够的智力和社会文化机会。它是最常见的神经发育障碍之一，患病率为5%-12%。位于染色体6p21-p22上的阅读障碍易感基因2是阅读障碍中复制最好的连锁区域之一。在系统连锁不平衡研究的基础上，双皮质区蛋白2基因(DCDC2)被确定为该区域的一个很强的候选基因。来自美国的一项研究数据表明，DCDC2内含子2的复杂缺失/复合短串联重复序列(STR)多态性是导致突变的原因。在这项研究中，我们分析了396个德国阅读障碍三联体中的这种多态，其中包括376个三联体，这为DCDC2基因座提供了强有力的支持。我们没有观察到与随机传递的显著偏离，无论是对于复合STR的缺失还是等位基因。我们也没有发现任何STR等位基因的缺失或与2标记单倍型的连锁不平衡，在我们的样本中，单倍型与阅读障碍有关。因此，本研究样本中导致阅读障碍易感性的致病变异/S/S尚待确定。
Dyslexia is a complex disorder manifested by difficulties in learning to read and spell despite conventional instruction, adequate intelligence and sociocultural opportunity. It is among the most common neurodevelopmental disorders with a prevalence of 5–12%. The dyslexia susceptibility locus 2 on chromosome 6p21–p22 is one of the best-replicated linkage regions in dyslexia. On the basis of systematic linkage disequilibrium studies, the doublecortin domain containing protein 2 gene (DCDC2) was identified as a strong candidate gene in this region. Data from a US study have suggested a complex deletion/compound short tandem repeat (STR) polymorphism in intron 2 of DCDC2 as the causative mutation. In this study, we analyzed this polymorphism in 396 German dyslexia trios which included 376 trios previously providing strong support for the DCDC2 locus. We observed no significant deviation from random transmission, neither for the deletion nor for the alleles of the compound STR. We also did not find the deletion or any of the STR alleles to be in linkage disequilibrium with the 2-marker haplotype, which was associated with dyslexia in our sample. We thus conclude that the causative variant/s in DCDC2 conferring susceptibility to dyslexia in our sample remain/s to be identified.