- •Four sets of microhaplotypes were screened for different purposes and reported.
- •The four sets contained 703, 301, 337, and 190 microhaplotypes, respectively.
- •Average Ae for the four sets reached 5.38, 6.30, 7.39, and 5.61, respectively.
- •A total of 301 microhaplotypes in Group 2 were further investigated.
- •These markers were highly polymorphic in different populations around the world.
Microhaplotypes are forensic genetic markers that combine single nucleotide polymorphisms in close proximity to one another. Highly discriminative microhaplotype markers could be superior to short tandem repeats (STRs) in DNA mixture deconvolution investigations because they are not interfered by stutters. In this study, the effective number of alleles (Ae) and discrimination power values of microhaplotypes and STRs were compared. It was found that current microhaplotypes are not as discriminative as commonly used forensic STRs. Effective screening of highly discriminative microhaplotype markers were consequently conducted for East Asian populations. To satisfy different forensic application needs, four sets of microhaplotypes with Ae values ≥ 4 were screened for under different conditions that included marker length and physical distances between markers. While the four sets contained 703, 301, 337, and 190 microhaplotypes, their average Ae values reached 5.38, 6.30, 7.39, and 5.61, respectively. The microhaplotype group containing 301 markers (maximum length of 200 bp and separated by ≥ 5 million bases) was further investigated. The results showed that none of the 301 loci were exactly the same as those previously reported, while seven loci partially overlapped with known markers. While Ae values of 45 loci were ≥ 8, the Ae value of the mh17WL-008 locus reached a maximum of 93.57. Further analysis showed that the newly identified microhaplotype markers were also highly polymorphic in African, American, European, and South Asian populations.
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Published online: May 15, 2022
Accepted: May 7, 2022
Received in revised form: May 5, 2022
Received: January 31, 2022
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