Highlights
- •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.
Abstract
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.
Keywords
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to Forensic Science International: GeneticsAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- Criteria for selecting microhaplotypes: mixture detection and deconvolution.Investig. Genet. 2015; 6: 1https://doi.org/10.1186/s13323-014-0018-3
- Facilitating complex DNA mixture interpretation by sequencing highly polymorphic haplotypes.Forensic Sci. Int. Genet. 2018; 35: 136-140https://doi.org/10.1016/j.fsigen.2018.05.001
- Evaluation of the Microhaplotypes panel for DNA mixture analyses.Forensic Sci. Int. Genet. 2018; 35: 149-155https://doi.org/10.1016/j.fsigen.2018.05.003
- Ancestry inference of 96 population samples using microhaplotypes.Int. J. Leg. Med. 2018; 132: 703-711https://doi.org/10.1007/s00414-017-1748-6
- Identifying novel microhaplotypes for ancestry inference.Int. J. Leg. Med. 2019; 133: 983-988https://doi.org/10.1007/s00414-018-1881-x
- Microhaplotypes for ancestry prediction.Forensic Sci. Int. Genet. Suppl. Ser. 2017; https://doi.org/10.1016/j.fsigss.2017.09.209
- Evaluating 130 microhaplotypes across a global set of 83 populations.Forensic Sci. Int. Genet. 2017; 29: 29-37https://doi.org/10.1016/j.fsigen.2017.03.014
- Selecting microhaplotypes optimized for different purposes.Electrophoresis. 2018; 39: 2815-2823https://doi.org/10.1002/elps.201800092
- Microhaplotypes in forensic genetics.Forensic Sci. Int. Genet. 2019; 38: 54-69https://doi.org/10.1016/j.fsigen.2018.09.009
- Current sequencing technology makes microhaplotypes a powerful new type of genetic marker for forensics.Forensic Sci. Int. Genet. 2014; 12: 215-224https://doi.org/10.1016/j.fsigen.2014.06.014
- A 124-plex microhaplotype panel based on next-generation sequencing developed for forensic applications.Sci. Rep. 2020; 10: 1945https://doi.org/10.1038/s41598-020-58980-x
- Microhaplotype loci are a powerful new type of forensic marker.Forensic Sci. Int. Genet. Suppl. Ser. 2013; 4: e123-e124https://doi.org/10.1016/j.fsigss.2013.10.063
- Approaches for identifying multiple-SNP haplotype blocks for use in human identification.Leg. Med. 2015; 17: 415-420https://doi.org/10.1016/j.legalmed.2015.06.003
- A microhaplotypes panel for massively parallel sequencing analysis of DNA mixtures.Forensic Sci. Int. Genet. 2019; 40: 140-149https://doi.org/10.1016/j.fsigen.2019.02.018
- Development and application of a nonbinary SNP-based microhaplotype panel for paternity testing involving close relatives.Forensic Sci. Int. Genet. 2020; 46102255https://doi.org/10.1016/j.fsigen.2020.102255
- NGS technology makes microhaplotype a potential forensic marker.Forensic Sci. Int. Genet. Suppl. Ser. 2015; 5: e233-e234https://doi.org/10.1016/j.fsigss.2015.09.093
- FLfinder: a novel software for the microhaplotype marker.Forensic Sci. Int. Genet. Suppl. Ser. 2015; 5: e622-e624https://doi.org/10.1016/j.fsigss.2015.10.002
- ALFRED: an allele frequency resource for research and teaching.Nucleic Acids Res. 2012; 40: D1010-D1015https://doi.org/10.1093/nar/gkr924
- MicroHapDB: a portable and extensible database of all published microhaplotype marker and frequency data.Front. Genet. 2020; 11: 781https://doi.org/10.3389/fgene.2020.00781
- A global reference for human genetic variation.Nature. 2015; 526: 68-74https://doi.org/10.1038/nature15393
- Building a custom large-scale panel of novel microhaplotypes for forensic identification using MiSeq and Ion S5 massively parallel sequencing systems.Forensic Sci. Int. Genet. 2020; 45102213https://doi.org/10.1016/j.fsigen.2019.102213
- Allelic diversity and forensic estimations of the Beijing Hans: comparative data on sequence-based and length-based STRs.Forensic Sci. Int. Genet. 2021; 51102424https://doi.org/10.1016/j.fsigen.2020.102424
- Proposed nomenclature for microhaplotypes.Hum. Genom. 2016; 10: 16https://doi.org/10.1186/s40246-016-0078-y
- A paternity testing case with mutations at three CODIS core loci.J. Trop. Med. 2020; 20: 1277-1279https://doi.org/10.3969/j.issn.1672-3619.2020.10.005
- Influence of genetic marker analysis on DNA evidence.Evid. Sci. 2012; 20: 737-749
- Forensic DNA typing: biology, technology, and genetics of STR markers.Chapter 2 - DNA Biology Review. second ed. Elsevier Academic Press, Amsterdam2005: 22-23
- Genome-wide analysis of single-nucleotide polymorphisms in human expressed sequences.Nat. Genet. 2000; 26: 233-236https://doi.org/10.1038/79981
Article info
Publication history
Published online: May 15, 2022
Accepted:
May 7,
2022
Received in revised form:
May 5,
2022
Received:
January 31,
2022
Identification
Copyright
© 2022 Elsevier B.V. All rights reserved.
