A targeted ancestry informative InDels panel on capillary electrophoresis for ancestry inference in Asian populations

Capillary electrophoresis (CE) is the primary methodology used in forensic DNA typing. Alleles of commonly used types of genetic markers could be separated and detected via CE based on dye color and migration time. Insertion/deletion (InDel) is an ideal genetic marker for forensic DNA analysis due to their abundance in the human genome, low mutation rate, availability of their allele types via CE, and elimination of stutter peaks. Moreover, Indels could be used as ancestry informative markers (AIMs) since allele frequencies of InDels is different among geographically separated populations. Several AI-InDels panels have been established based on CE platform to achieve the inter-continental populations distinction. However, improvements to differentiate intra-continental populations is few. In this study, twenty-one InDels with fixation index (FST ) >0.15 were selected and assembled into one AI-InDels panel. Using well-designed primers, those twenty-one InDels could be amplified successfully and genotyped on the CE platform accurately and completely. The panel showed a large FST distance distinction among the 10 Asian populations. Using clustering analysis, 10 Asian populations were classified into three subgroups: East Asian, Southeast Asian and South Asian subgroups. To evaluate the panel's capability in ancestry inference, a validation experiment was undertaken with 319 individuals from four geographically separated populations in China. Four Chinese populations were classified into different ancestry subgroups and 81.8% test individuals' ancestry could be inferred correctly. Our result showed development high ancestry informative InDels panel based on CE platform is a potential for individual ancestry inference among intra-continental populations. This article is protected by copyright. All rights reserved.