Grigorenko E L, Wood F B, Meyer M S, Pauls J E, Hart L A, Pauls D L
Department of Psychology, Yale University School of Medicine, New Haven, Connecticut 06520, USA.
Am J Med Genet. 2001 Jan 8;105(1):120-9.
Eight extended dyslexic families with at least four affected individuals were genotyped with twelve genetic markers spanning the Rh (rhesus factor) locus. Eleven of these markers were located on the short arm and the other was on the long arm of chromosome 1. Five theoretically derived phenotypes were used in the linkage analyses: 1) phonemic awareness; 2) phonological decoding; 3) rapid automatized naming; 4) single word reading; and 5) vocabulary. In addition, a lifetime diagnosis of dyslexia was used as a phenotype. Both parametric and non-parametric genetic analyses were completed. The results supported the importance of a putative locus on 1p. In addition, two-locus analyses assuming the interaction between a 1p locus and a 6p locus, previously shown to be of interest for dyslexia, were conducted. As a result, the nonparametric linkage (NPL) scores for rapid automatized naming and phonological decoding were significantly increased. In particular, the NPL scores for rapid automatized naming exceeded 5.0 for certain markers. These results provide strong evidence for separate but jointly acting contributions of the 1p and 6p loci to the reading impairments associated with rapid naming and suggestive evidence for a similar mechanism involving phonological decoding.
对八个至少有四名患者的诵读困难扩展家系进行基因分型，使用了跨越Rh（恒河猴因子）位点的12个遗传标记。其中11个标记位于1号染色体短臂，另一个位于长臂。连锁分析中使用了五种理论推导的表型：1）语音意识；2）语音解码；3）快速自动命名；4）单字阅读；5）词汇量。此外，将诵读困难的终生诊断用作一种表型。完成了参数和非参数遗传分析。结果支持了1号染色体短臂上一个假定基因座的重要性。此外，还进行了双基因座分析，假定1号染色体短臂上的一个基因座与先前显示与诵读困难有关的6号染色体短臂上的一个基因座之间存在相互作用。结果，快速自动命名和语音解码的非参数连锁（NPL）分数显著提高。特别是，某些标记的快速自动命名的NPL分数超过了5.0。这些结果为1号染色体短臂和6号染色体短臂基因座对与快速命名相关的阅读障碍有单独但共同起作用的贡献提供了有力证据，并为涉及语音解码的类似机制提供了暗示性证据。
