Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia
Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia
复制标题
DOI：
10.1086/429131
复制
发表时间：
2005-04-01
影响因子：
9.8
通讯作者：
Williams, J
中科院分区：
文献类型：
--
作者：
Cope, N;Harold, D;Williams, J
发展性阅读障碍（DD）和染色体6p之间的联系已经在一些独立的样本中被复制。最近对该基因的研究发现，DD与6p22.2染色体575 kb区域的多个基因（包括VMP、DCDC2、KIAA0319、TTRAP和THEM2）存在关联，但证据并不一致。我们的目标是通过在独立样本中对这些基因进行系统的高密度（类似于2 - 3 kb的间隔）连锁不平衡筛选来确定特定的基因或基因，结合基于家庭和病例对照的设计，其中阅读障碍被定义为阅读障碍的极端代表。利用DNA池技术，我们首次观察到与17个单核苷酸多态性（snp）相关的证据，其中13个位于KIAA0319基因(P
Linkage between developmental dyslexia ( DD) and chromosome 6p has been replicated in a number of independent samples. Recent attempts to identify the gene responsible for the linkage have produced inconsistent evidence for association of DD with a number of genes in a 575-kb region of chromosome 6p22.2, including VMP, DCDC2, KIAA0319, TTRAP, and THEM2. We aimed to identify the specific gene or genes involved by performing a systematic, high-density (similar to 2 - 3- kb intervals) linkage disequilibrium screen of these genes in an independent sample, incorporating family-based and case-control designs in which dyslexia was defined as an extreme representation of reading disability. Using DNA pooling, we first observed evidence for association with 17 single-nucleotide polymorphisms ( SNPs), 13 of which were located in the KIAA0319 gene (P