Two-locus sampling distributions and their application.
Two-locus sampling distributions and their application.
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作者：
R. Hudson
对中性模型下的双轨迹样本概率估计方法进行了扩展。当指定每个等位基因的祖先或衍生状态时，描述样本概率的估计。此外，还提供了双位点二倍体样本的概率。描述了一种使用这些双位点概率来检验观察到的连锁不平衡水平是异常大还是异常小的方法。此外，还得到了基于独立位点对的重组参数的极大似然估计的性质。对于两个以上链接的站点，还检查了复合似然估计器，并发现它与其他可用的特别估计器一样有效，甚至更好。在欧洲人（CEPH）的样本中分析了人类Xq28和Xq25区域的连锁不平衡。估计的重组参数大约比在平衡中性模型下预期的小五倍。
Methods of estimating two-locus sample probabilities under a neutral model are extended in several ways. Estimation of sample probabilities is described when the ancestral or derived status of each allele is specified. In addition, probabilities for two-locus diploid samples are provided. A method for using these two-locus probabilities to test whether an observed level of linkage disequilibrium is unusually large or small is described. In addition, properties of a maximum-likelihood estimator of the recombination parameter based on independent linked pairs of sites are obtained. A composite-likelihood estimator, for more than two linked sites, is also examined and found to work as well, or better, than other available ad hoc estimators. Linkage disequilibrium in the Xq28 and Xq25 region of humans is analyzed in a sample of Europeans (CEPH). The estimated recombination parameter is about five times smaller than one would expect under an equilibrium neutral model.