The impact of marker allele frequency misspecification in variance components quantitative trait locus analysis using sibship data.
The impact of marker allele frequency misspecification in variance components quantitative trait locus analysis using sibship data.
复制标题
使用同胞数据进行方差分量数量性状基因座分析中标记等位基因频率错误指定的影响。
DOI：
10.1002/gepi.1370170713
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发表时间：
1999
期刊：
影响因子：
--
通讯作者：
Province,MA
中科院分区：
文献类型：
--
作者：
Borecki,IB;Province,MA
在收集数量性状基因座（QTL）连锁研究的亲缘关系数据而不获取亲本基因型的情况下，必须使用标记等位基因频率来估计由血统共享相同基因的比例。迄今为止，还没有进行系统的研究，以评估这些频率的错误指定的数量性状连锁测试的影响。根据不同的等位基因频率估计值，对数量性状的模拟和实际数据进行了分析。虽然正确地指定等位基因频率分布会导致稍微更强大的测试和更高的lod分数，但差异很小，不太可能改变研究结论。这些结果表明，至少对于QTL分析，有很大的宽容错误指定标记等位基因频率很少，如果有的话，明显的影响连锁测试。然而，观察到的差异可能大到足以改变人们可能给予积极调查结果以采取后续行动的优先次序。
In cases where sibship data are collected for a quantitative trait locus (QTL) linkage study without access to parental genotypes, the proportion of genes shared identical by descent must be estimated using the marker allele frequencies. No systematic study has been conducted to date to evaluate the effect of misspecification of these frequencies on a test of quantitative trait linkage. Analysis of both simulated and actual data on quantitative traits was carried out under various sets of allele frequency estimates. While correctly specifying the allele frequency distribution led to a slightly more powerful test and higher lod scores, the differences were small and would not likely alter the conclusion of a study. These results suggest that, at least for QTL analysis, there is a great deal of tolerance for misspecifying marker allele frequencies with little, if any, appreciable effect on the linkage test. However, the observed variations may be sufficiently large to alter the priority one might give to a positive finding for follow up.