Ayres K L
Department of Applied Statistics, University of Reading, UK.
Genetica. 2000;108(2):137-43. doi: 10.1023/a:1004152931349.
A two-locus match probability is presented that incorporates the effects of within-subpopulation inbreeding (consanguinity) in addition to population subdivision. The usual practice of calculating multi-locus match probabilities as the product of single-locus probabilities assumes independence between loci. There are a number of population genetics phenomena that can violate this assumption: in addition to consanguinity, which increases homozygosity at all loci simultaneously, gametic disequilibrium will introduce dependence into DNA profiles. However, in forensics the latter problem is usually addressed in part by the careful choice of unlinked loci. Hence, as is conventional, we assume gametic equilibrium here, and focus instead on between-locus dependence due to consanguinity. The resulting match probability formulae are an extension of existing methods in the literature, and are shown to be more conservative than these methods in the case of double homozygote matches. For two-locus profiles involving one or more heterozygous genotypes, results are similar to, or smaller than, the existing approaches.
本文提出了一种双基因座匹配概率,该概率除了考虑群体细分外,还纳入了亚群体内近亲繁殖(血缘关系)的影响。将多基因座匹配概率计算为单基因座概率乘积的通常做法假定基因座之间相互独立。有许多群体遗传学现象可能会违反这一假设:除了血缘关系会同时增加所有基因座的纯合性外,配子不平衡也会给DNA图谱引入依赖性。然而,在法医学中,后一个问题通常部分通过仔细选择不连锁的基因座来解决。因此,按照惯例,我们在此假定配子平衡,而是将重点放在由于血缘关系导致的基因座间依赖性上。由此得出的匹配概率公式是文献中现有方法的扩展,并且在双纯合子匹配的情况下,比这些方法更为保守。对于涉及一个或多个杂合基因型的双基因座图谱,结果与现有方法相似或更小。