A Quantitative Trait Locus on 13q14.2 for Trunk Strength

W. Huygens, M. Thomis, M. Peeters, J. Aerssens, R. Janssen, R. Vlietinck, G. Beunen
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Abstract

Abstract Previous findings show strong evidence for the role of retinoblastoma (Rb) in myoblast proliferation and differentiation. However, it is not known whether variation in the retinoblastoma gene (RB1) is responsible for normal variation in human muscle strength. Therefore, a linkage analysis for quantitative traits was performed on 329 young male siblings from 146 families with muscle strength, using a polymorphic marker in RB1 (D13S153 on 13q14.2). Trunk strength, a general strength indicator that requires activation of large muscle groups, was measured on a Cybex TEF isokinetic dynamometer. We found evidence for linkage between locus D13S153 at 13q14.2 and several measurements of trunk flexion with LOD scores between 1.62 and 2.78 (.002 < p < .0002). No evidence for linkage was found with trunk extension. This first exploration of the relationship between RB1 and human muscle strength through linkage analysis warrants efforts for further fine mapping of this region.
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树干强度13q14.2的一个数量性状位点
先前的研究结果有力地证明了视网膜母细胞瘤(retinoblastoma, Rb)在成肌细胞增殖和分化中的作用。然而,目前尚不清楚视网膜母细胞瘤基因(RB1)的变异是否导致了人类肌肉力量的正常变化。因此,利用RB1多态性标记(13q14.2上的D13S153),对来自146个肌肉力量家族的329名年轻男性兄弟姐妹进行了数量性状的连锁分析。躯干力量,一种需要激活大肌肉群的一般力量指标,在Cybex TEF等速测功机上测量。我们发现在13q14.2位点的D13S153位点与躯干屈曲的几个测量值之间存在联系,LOD评分在1.62到2.78之间。002 < p < .0002)。没有发现树干延伸有关联的证据。通过连锁分析首次探索了RB1与人类肌肉力量之间的关系,为进一步精细绘制该区域提供了保证。
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