血縁関係の推定に資する連鎖とサイレントアレルに対応した尤度比の計算

抄録

In this study, we evaluated likelihood ratio (LR) calculation methods for pairwise kinship analysis considering linkage and silent alleles. For the evaluation, we created a program that enables the calculation of LR for full siblings, half siblings, grandparent - grandchild, uncle/aunt - nephew/niece and first cousins, and compared calculated LRs with Familias and FamLink. We used the program to simulate LR distribution considering linkage and silent alleles in the Japanese population for the five relationships using GlobalFiler autosomal STRs. The simulation results indicated that the difference in the distribution of LR between full siblings and unrelated persons was large, suggesting high practicality of full sibling analysis by the LR calculation method in this study. Regarding full sibling analysis, we further evaluated the effect of silent alleles on LR and the cases when the two persons in fact have a relationship other than full siblings. Since the simulations of the pedigree data in this study were run under conditions in which mutation, linkage and silent alleles occur, the results should reflect reality better than the simulations in previous studies.