State of the Art for Microhaplotypes

In recent years, the number of publications on microhaplotypes has averaged more than a dozen papers annually. Many have contributed to a significant increase in the number of highly polymorphic microhaplotype loci. This increase allows microhaplotypes to be very informative in four main areas of forensic uses of DNA: individualization, ancestry inference, kinship analysis, and mixture deconvolution. The random match Probability (RMP) can be as small as 10(−100) for a large panel of microhaplotypes. It is possible to measure the heterozygosity of an MH as the effective number of alleles (A(e)). A(e) > 7.5 exists for African populations and >4.5 exists for Native American populations for a smaller panel of two dozen selected microhaplotypes. Using STRUCTURE, at least 10 different ancestral clusters can be defined by microhaplotypes. The A(e) for a locus is also identical to the Paternity Index (PI), the measure of how informative a locus will be in parentage testing. High A(e) loci can also be useful in missing persons cases. Finally, high A(e) microhaplotypes allow the near certainty of seeing multiple additional alleles in a mixture of two or more individuals in a DNA sample. In summary, a panel of higher A(e) microhaplotypes can outperform the standard CODIS markers.