Xu S
Department of Botany and Plant Sciences, University of California, Riverside 92521, USA.
Genetics. 1996 Dec;144(4):1951-60. doi: 10.1093/genetics/144.4.1951.
The proportion of alleles identical by descent (IBD) determines the genetic covariance between relatives, and thus is crucial in estimating genetic variances of quantitative trait loci (QTL). However, IBD proportions at QTL are unobservable and must be inferred from marker information. The conventional method of QTL variance analysis maximizes the likelihood function by replacing the missing IBDs by their conditional expectations (the expectation method), while in fact the full likelihood function should take into account the conditional distribution of IBDs (the distribution method). The distribution method for families of more than two sibs has not been obvious because there are n(n - 1)/2 IBD variables in a family of size n, forming an n x n symmetrical matrix. In this paper, I use four binary variables, where each indicates the event that an allele from one of the four grandparents has passed to the individual. The IBD proportion between any two sibs is then expressed as a function of the indicators. Subsequently, the joint distribution of the IBD matrix is derived from the distribution of the indicator variables. Given the joint distribution of the unknown IBDs, a method to compute the full likelihood function is developed for families of arbitrary sizes.
同源等位基因(IBD)的比例决定了亲属之间的遗传协方差,因此在估计数量性状基因座(QTL)的遗传方差中至关重要。然而,QTL处的IBD比例是不可观测的,必须从标记信息中推断出来。传统的QTL方差分析方法通过用其条件期望替换缺失的IBD来最大化似然函数(期望法),而实际上完整的似然函数应考虑IBD的条件分布(分布法)。对于多于两个同胞的家庭,分布法并不明显,因为在大小为n的家庭中有n(n - 1)/2个IBD变量,形成一个n×n对称矩阵。在本文中,我使用四个二元变量,每个变量表示来自四个祖父母之一的一个等位基因传递给个体的事件。然后,任意两个同胞之间的IBD比例表示为这些指标的函数。随后,从指标变量的分布推导出IBD矩阵的联合分布。给定未知IBD的联合分布,为任意大小的家庭开发了一种计算完整似然函数的方法。