Luciano M, Wright M J, Duffy D L, Wainwright M A, Zhu G, Evans D M, Geffen G M, Montgomery G W, Martin N G
Queensland Institute of Medical Research, Herston, Brisbane, Australia.
Behav Genet. 2006 Jan;36(1):45-55. doi: 10.1007/s10519-005-9003-1. Epub 2005 Dec 9.
A genome-wide linkage scan of 795 microsatellite markers (761 autosomal, 34 X chromosome) was performed on Multidimensional Aptitude Battery subtests and verbal, performance and full scale scores, the WAIS-R Digit Symbol subtest, and two word-recognition tests (Schonell Graded Word Reading Test, Cambridge Contextual Reading Test) highly predictive of IQ. The sample included 361 families comprising 2-5 siblings who ranged in age from 15.7 to 22.2 years; genotype, but not phenotype, data were available for 81% of parents. A variance components analysis which controlled for age and sex effects showed significant linkage for the Cambridge reading test and performance IQ to the same region on chromosome 2, with respective LOD scores of 4.15 and 3.68. Suggestive linkage (LOD score>2.2) for various measures was further supported on chromosomes 6, 7, 11, 14, 21 and 22. Where location of linkage peaks converged for IQ subtests within the same scale, the overall scale score provided increased evidence for linkage to that region over any individual subtest. Association studies of candidate genes, particularly those involved in neural transmission and development, will be directed to genes located under the linkage peaks identified in this study.
对795个微卫星标记(761个常染色体标记,34个X染色体标记)进行全基因组连锁扫描,这些标记针对多维能力倾向成套测验的各个子测验、言语、操作和全量表分数、韦氏成人智力量表修订版数字符号子测验,以及两项对智商具有高度预测性的单词识别测试(肖内尔分级单词阅读测试、剑桥情境阅读测试)。样本包括361个家庭,每个家庭有2至5个兄弟姐妹,年龄在15.7岁至22.2岁之间;81%的父母有基因型数据,但没有表型数据。一项控制了年龄和性别效应的方差成分分析显示,剑桥阅读测试和操作智商与2号染色体上的同一区域存在显著连锁,相应的对数优势分数分别为4.15和3.68。在6号、7号、11号、14号、21号和22号染色体上,各种测量指标的暗示性连锁(对数优势分数>2.2)得到了进一步支持。在同一量表内,若智商子测验的连锁峰值位置趋同,那么整体量表分数相对于任何单个子测验而言,都为该区域的连锁提供了更多证据。对候选基因的关联研究,尤其是那些参与神经传递和发育的基因,将针对本研究中确定的连锁峰值下的基因展开。