Grigorenko E L, Wood F B, Meyer M S, Pauls D L
Department of Psychology, Yale University, New Haven, CT 06520, USA.
Am J Hum Genet. 2000 Feb;66(2):715-23. doi: 10.1086/302755.
In this study, which is a continuation and an extension of an earlier study, we enrolled two new families (N=31) and recruited more individuals from the previously ascertained families (N=56). The eight multiplex families (N=171) presented in this study were ascertained from a sample of adult probands whose childhood reading history is well documented through archival information. Six phenotypes were constructed to span a range of dyslexia-related cognitive processes. These phenotypes were (1) phonemic awareness (of spoken words); (2) phonological decoding (of printed nonwords); (3) rapid automatized naming (of colored squares or object drawings); (4) single-word reading (orally, of printed real words); (5) vocabulary; and (6) spelling (of dictated words). In addition, the diagnosis of lifelong dyslexia was established by clinical means. Genotyping was done with nine highly polymorphic markers from the 6p22.3-6p21.3 region. The results of two- and multipoint identity-by-descent and identity-by-state analyses supported the importance of a putative locus in the D6S464-D6S273 region for a number of dyslexia-related cognitive deficits.
在这项作为早期研究的延续与扩展的研究中，我们纳入了两个新家庭（N = 31），并从先前确定的家庭中招募了更多个体（N = 56）。本研究中呈现的八个多重家庭（N = 171）是从成年先证者样本中确定的，这些先证者的童年阅读史通过档案信息有详尽记录。构建了六种表型以涵盖一系列与诵读困难相关的认知过程。这些表型分别为：（1）（对口语单词的）音素意识；（2）（对印刷假词的）语音解码；（3）（对彩色方块或物体图画的）快速自动命名；（4）（对印刷实词的口头）单字阅读；（5）词汇；以及（6）（对听写单词的）拼写。此外，通过临床手段确立了终身诵读困难的诊断。使用来自6p22.3 - 6p21.3区域的九个高度多态性标记进行基因分型。两点及多点同源性和状态同源性分析的结果支持了6号染色体短臂上D6S464 - D6S273区域中一个假定基因座对于一些与诵读困难相关的认知缺陷的重要性。
