Kimberling W J, Goldgar D E
Acta Genet Med Gemellol (Roma). 1980;29(4):255-62. doi: 10.1017/s0001566000007765.
A method for the estimation of genetic correlations based upon analysis of genetic marker phenotypes is presented. At a given marker locus, the probability of observing a pair of individuals with a specific combination of phenotypes can be expressed as a function of the gene frequencies at that locus and the genetic correlation (R) between that pair. The likelihood of obtaining a sample of n such pairs with their phenotypes at m marker loci can be expressed as a product of nm such functions. From the likelihood function, maximum likelihood estimates of R can be obtained, and hypotheses about R may be tested. A sample of Swedish twin families (61 dizygotic twin pairs, 268 husband-wife pairs, and 164 sib pairs) were analyzed by this method using information from 21 markers. It was found that for the twin pairs, R = 0.458, which was significantly different from the R calculated for sib pairs (R = 0.558) but not significantly different from the expected 0.5. for the husband-wife pairs, it was found that R = 0.086, which did differ significantly from the expected value of 0, indicating the presence of nonrandom mating in this population.
本文提出了一种基于遗传标记表型分析来估计遗传相关性的方法。在给定的标记位点，观察到具有特定表型组合的一对个体的概率可以表示为该位点基因频率以及这对个体之间遗传相关性（R）的函数。在m个标记位点获得n对具有相应表型的样本的似然性可以表示为nm个此类函数的乘积。根据似然函数，可以获得R的最大似然估计值，并且可以检验关于R的假设。利用来自21个标记的信息，通过该方法对瑞典双胞胎家庭样本（61对异卵双胞胎、268对夫妻和164对同胞对）进行了分析。结果发现，对于双胞胎对，R = 0.458，这与同胞对计算出的R（R = 0.558）有显著差异，但与预期的0.5没有显著差异。对于夫妻对，发现R = 0.086，这与预期值0有显著差异，表明该人群中存在非随机交配。
