Microhaplotype: Ability of personal identification and being ancestry informative marker

Abstract Microhaplotype is a new type of genetic marker. Due to the multi-allelic characteristic, microhaplotype could have much better personal identification ability compared to the bi-allelic SNPs. Microhaplotype could also have alleles associated with specific populations. With this research, phased data from 1000 genomes project were used to evaluate the ability as personal identification and ancestry informative marker. Totally 50 previously selected microhaplotype loci and 568 unrelated individuals from six regions around the globe were enrolled. Including Africans, Europeans, East Asians, Americans. Specifically from African Caribbeans in Barbados (ACB), Americans of African Ancestry in SW USA (ASW), Northern and Western European Ancestry (CEU), Han Chinese in Beijing, China (CHB), Southern Han Chinese (CHS) and Japanese in Tokyo, Japan (JPT). The range of SNPs number per locus among the 50 loci has a range from 3 to 10. The allele number range of the 50 microhaplotype is 4–47. The median heterozygosity for these 50 loci is 0.67 for the 6 populations studied and ranges from 0.07–0.92. To assess the power as AIM, we applied standard population analysis approach of STRUCTURE analysis. Visual inspection of cluster plots suggests a close match between the co-ancestry patterns seen in ACB and ASW as well as in CHB, CHS and JPT.