Francks Clyde, Fisher Simon E, MacPhie I Laurence, Richardson Alex J, Marlow Angela J, Stein John F, Monaco Anthony P
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom.
Am J Hum Genet. 2002 Mar;70(3):800-5. doi: 10.1086/339249. Epub 2002 Jan 3.
Genomewide quantitative-trait locus (QTL) linkage analysis was performed using a continuous measure of relative hand skill (PegQ) in a sample of 195 reading-disabled sibling pairs from the United Kingdom. This was the first genomewide screen for any measure related to handedness. The mean PegQ in the sample was equivalent to that of normative data, and PegQ was not correlated with tests of reading ability (correlations between minus sign0.13 and 0.05). Relative hand skill could therefore be considered normal within the sample. A QTL on chromosome 2p11.2-12 yielded strong evidence for linkage to PegQ (empirical P=.00007), and another suggestive QTL on 17p11-q23 was also identified (empirical P=.002). The 2p11.2-12 locus was further analyzed in an independent sample of 143 reading-disabled sibling pairs, and this analysis yielded an empirical P=.13. Relative hand skill therefore is probably a complex multifactorial phenotype with a heterogeneous background, but nevertheless is amenable to QTL-based gene-mapping approaches.
在来自英国的195对阅读障碍同胞对样本中，使用相对手部技能的连续测量值（PegQ）进行全基因组数量性状位点（QTL）连锁分析。这是首次对与利手相关的任何测量指标进行全基因组筛查。样本中的平均PegQ与标准数据相当，且PegQ与阅读能力测试无相关性（相关系数在-0.13至0.05之间）。因此，样本中的相对手部技能可被视为正常。位于2号染色体p11.2 - 12区域的一个QTL产生了与PegQ连锁的有力证据（经验性P = 0.00007），同时还鉴定出位于17号染色体p11 - q23区域的另一个提示性QTL（经验性P = 0.002）。在143对阅读障碍同胞对的独立样本中对2号染色体p11.2 - 12位点进行了进一步分析，该分析得出的经验性P = 0.13。因此，相对手部技能可能是一种具有异质性背景的复杂多因素表型，但仍然适合基于QTL的基因定位方法。
