Plomin R, McClearn G E, Smith D L, Vignetti S, Chorney M J, Chorney K, Venditti C P, Kasarda S, Thompson L A, Detterman D K
Center for Developmental and Health Genetics, Pennsylvania State University, University Park 16802.
Behav Genet. 1994 Mar;24(2):107-18. doi: 10.1007/BF01067815.
General cognitive ability (intelligence, often indexed by IQ scores) is one of the most highly heritable behavioral dimensions. In an attempt to identify some of the many genes (quantitative trait loci; QTL) responsible for the substantial heritability of this quantitative trait, the IQ QTL Project uses an allelic association strategy. Allelic frequencies are compared for the high and low extremes of the IQ dimension using DNA markers in or near genes that are likely to be relevant to neural functioning. Permanent cell lines have been established for low-IQ (mean IQ = 82; N = 18), middle-IQ (mean IQ = 105; N = 21), and high-IQ (mean IQ = 130; N = 24) groups and for a replication sample consisting of even more extreme low-IQ (mean IQ = 59; N = 17) and high-IQ (mean IQ = 142; N = 27) groups. Subjects are Caucasian children tested from 6 to 12 years of age. This first report of the IQ QTL Project presents allelic association results for 46 two-allele markers and for 26 comparisons for 14 multiple-allele markers. Two markers yielded significant (p < .01) allelic frequency differences between the high- and the low-IQ groups in the combined sample-a new HLA marker for a gene unique to the human species and a new brain-expressed triplet repeat marker (CTGB33). The prospects for harnessing the power of molecular genetic techniques to identify QTL for quantitative dimensions of human behavior are discussed.
一般认知能力(智力,通常用智商分数来衡量)是行为维度中遗传性最高的特征之一。为了确定众多基因(数量性状基因座;QTL)中哪些与这种数量性状的高遗传性有关,智商QTL项目采用了等位基因关联策略。利用可能与神经功能相关的基因内部或附近的DNA标记,比较智商维度高低两端的等位基因频率。已为低智商(平均智商 = 82;N = 18)、中等智商(平均智商 = 105;N = 21)和高智商(平均智商 = 130;N = 24)组以及由更极端的低智商(平均智商 = 59;N = 17)和高智商(平均智商 = 142;N = 27)组组成的重复样本建立了永久细胞系。受试者为6至12岁接受测试的白人儿童。智商QTL项目的这份首次报告展示了46个双等位基因标记以及14个多等位基因标记的26次比较的等位基因关联结果。在合并样本中,有两个标记在高智商组和低智商组之间产生了显著(p <.01)的等位基因频率差异——一个是人类特有的基因的新HLA标记,另一个是新的大脑表达三联体重复标记(CTGB33)。本文还讨论了利用分子遗传技术的力量来识别人类行为数量维度的QTL的前景。