Sasse G, Müller H, Chakraborty R, Ott J
Department of Research, Kantonsspital, University of Basel, Switzerland.
Hum Hered. 1994 Nov-Dec;44(6):337-43. doi: 10.1159/000154241.
In linkage analysis and gene mapping in general, typing error and/or errors in specifying pedigree relationships between individuals typically lead to an upwards bias in recombination fraction estimates and to a loss of power for detecting linkage. [Ott J: Analysis of Human Genetic Linkage. Baltimore, Johns Hopkins University Press, 1991]. The presence of nonpaternity is the most common source of error of misspecification of pedigree relationships between individuals that can have a negative impact on pedigree analysis. We have developed estimates of underlying nonpaternity probabilities based on observed Mendelian inconsistencies. The methods were applied to a sample of 1,607 children and their parents. Genetic marker data were investigated to test for exclusions due to nonpaternity. Among the 1,607 children, 11 or 0.68% exclusions were found. When a constant nonpaternity rate was assumed for each child, its maximum likelihood estimate turned out to be 0.78% with asymptotic 95% confidence limits of 0.41% and 1.35%. When varying nonpaternity rates were assumed, its mean was estimated as 0.83% with asymptotic 95% confidence limits of 0.32% and 1.33%.
在一般的连锁分析和基因定位中，分型错误和/或个体间系谱关系指定错误通常会导致重组率估计值出现向上偏差，并导致检测连锁的能力丧失。[奥托 J：《人类遗传连锁分析》。巴尔的摩，约翰·霍普金斯大学出版社，1991年]。非亲生关系的存在是个体间系谱关系错误指定的最常见错误来源，可能会对系谱分析产生负面影响。我们基于观察到的孟德尔不一致性，开发了潜在非亲生概率的估计方法。这些方法应用于1607名儿童及其父母的样本。对遗传标记数据进行了调查，以检测因非亲生关系导致的排除情况。在1607名儿童中，发现了11例（即0.68%）排除情况。当为每个孩子假设一个恒定的非亲生率时，其最大似然估计值为0.78%，渐近95%置信区间为0.41%和1.35%。当假设不同的非亲生率时，其均值估计为0.83%，渐近95%置信区间为0.32%和1.33%。
