分子遺傳學的研究極大地推進了我們對閱讀障礙的理解，這對於深入了解閱讀障礙者大腦結構和功能特征及其認知發展缺陷具有重要的推動意義，也有利於閱讀障礙兒童的鑒別與矯治。目前研究者已經發現了多個閱讀障礙候選基因，然而閱讀障礙是受到多基因共同作用的複雜遺傳疾病，其表現形式還受到語言文化環境等多種因素的影響，從不同研究中得到的結果仍然存在較大的差異。目前，對於這些候選基因的作用的實質還沒有明確的結論，研究還處於初步積累階段，仍然需要大量的研究對已有結果進行重複驗證。當前正在發展的多中心合作研究將極大地促進閱讀障礙候選基因的研究，幫助我們更好地探討基因作用跨語言、文化、種族的普遍性和特殊性。
另外，目前的研究者普遍認同閱讀障礙代表了閱讀能力正態分布的末端，他們隻存在發展上的落後（e.g.，Ho et al.，2007；Shaywitz & Shaywitz，2005）。既然閱讀障礙代表閱讀能力的末端，屬於閱讀能力連續體的一部分，那麽閱讀障礙的候選基因對一般群體閱讀能力的作用如何是值得研究者進一步探討的問題。此外，研究者主要采用橫斷研究的方法，僅在單一時間點上探討候選基因與閱讀障礙的關係，而行為研究已經證明，閱讀障礙者的認知缺陷及障礙程度在個體發展的不同階段存在異質性，因此後續研究還需要從縱向追蹤的角度進行深入分析。
摘要 Abstract
Developmental dyslexia, DD, is a complex genetic disorder, and with multiple cognitive deficits.Previous molecular genetic studies mainly adopted case-control design to investigate possible candidate genes for DD, and have reported several candidate genes (such as DYX1C1，DCDC2，KIAA0319/TTRAP).Further investigation revealed that these candidate genes were also in contribution to reading-related cognitive skills.This paper introduces previous studies on candidate genes of DD, including findings of genetic association studies on Chinese population.
Keywords
developmental dyslexia, candidate gene, association analysis, cognitive phenotype
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[1] 成都醫學院心理學係
[2] 北京師範大學認知神經科學與學習國家重點實驗室