Li Yu-Mei, Xiang Yang, Sun Zhen-Qiu
School of Public Health, Central South University, Changsha, PR China.
Hum Hered. 2008;65(3):121-8. doi: 10.1159/000109729. Epub 2007 Oct 12.
Quantitative trait locus (QTL) mapping can be accomplished through the method of selective genotyping, which is based on the differences of frequencies between an upper sample and a lower sample in population. However, amplifying the differences in marker allele frequencies in extreme samples may increase the probability for QTL mapping. Shannon entropy, which is a nonlinear function of allele frequencies, can be used to amplify the differences in marker allele frequencies. In this paper, we present a novel measure for linkage disequilibrium (LD) between a marker and single QTL, that is based on the comparison of the entropy and conditional entropy in a marker in extreme samples of population. This measure of LD between the marker and the trait locus can be used when the marker allele frequencies are known in the extreme samples of a population. We investigate the mapping performance in both analytic and simulation scenarios of a single QTL linked to a single marker. Our results show that the measure has very reasonable performance. In addition, a simulation study is performed on the basis of the haplotype frequencies of 10 SNPs of angiotensin-I converting enzyme (ACE) genes.
数量性状基因座(QTL)定位可以通过选择性基因分型的方法来完成,该方法基于群体中高值样本和低值样本之间频率的差异。然而,放大极端样本中标记等位基因频率的差异可能会增加QTL定位的概率。香农熵是等位基因频率的非线性函数,可用于放大标记等位基因频率的差异。在本文中,我们提出了一种标记与单个QTL之间连锁不平衡(LD)的新度量方法,该方法基于群体极端样本中标记的熵和条件熵的比较。当群体极端样本中的标记等位基因频率已知时,可使用这种标记与性状基因座之间LD的度量方法。我们在单个QTL与单个标记连锁的分析和模拟场景中研究了定位性能。我们的结果表明,该度量方法具有非常合理的性能。此外,基于血管紧张素-I转换酶(ACE)基因10个单核苷酸多态性(SNP)的单倍型频率进行了模拟研究。