Thomas S C, Hill W G
Institute of Cell, Animal and Population Biology, University of Edinburgh, Edinburgh EH9 3JT, United Kingdom.
Genetics. 2000 Aug;155(4):1961-72. doi: 10.1093/genetics/155.4.1961.
Previous techniques for estimating quantitative genetic parameters, such as heritability in populations where exact relationships are unknown but are instead inferred from marker genotypes, have used data from individuals on a pairwise level only. At this level, families are weighted according to the number of pairs within which each family appears, hence by size rather than information content, and information from multiple relationships is lost. Estimates of parameters are therefore not the most efficient achievable. Here, Markov chain Monte Carlo techniques have been used to partition the population into complete sibships, including, if known, prior knowledge of the distribution of family sizes. These pedigrees have then been used with restricted maximum likelihood under an animal model to estimate quantitative genetic parameters. Simulations to compare the properties of parameter estimates with those of existing techniques indicate that the use of sibship reconstruction is superior to earlier methods, having lower mean square errors and showing nonsignificant downward bias. In addition, sibship reconstruction allows the estimation of population allele frequencies that account for the relationships within the sample, so prior knowledge of allele frequencies need not be assumed. Extensions to these techniques allow reconstruction of half sibships when some or all of the maternal genotypes are known.
以往用于估计数量遗传参数的技术,比如在亲缘关系未知但可从标记基因型推断的群体中估计遗传力,仅使用个体间两两水平的数据。在此水平上,家系是根据每个家系出现的配对数量来加权的,因此是按大小而非信息含量来加权,多个亲缘关系的信息就丢失了。所以参数估计并非最有效的。在这里,马尔可夫链蒙特卡罗技术已被用于将群体划分为全同胞家系,包括(如果已知的话)家系大小分布的先验知识。然后在动物模型下,这些谱系被用于限制最大似然法来估计数量遗传参数。将参数估计的特性与现有技术进行比较的模拟表明,使用同胞家系重建优于早期方法,具有更低的均方误差且显示出不显著的向下偏差。此外,同胞家系重建允许估计考虑样本内亲缘关系的群体等位基因频率,因此无需假设等位基因频率的先验知识。这些技术的扩展允许在部分或全部母本基因型已知时重建半同胞家系。