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A multipurpose panel of microhaplotypes for use with STR markers in casework
Kenneth K Kidd1, Andrew J Pakstis1, Neeru Gandotra1
1Yale University School of Medicine, Department of Genetics, 333 Cedar Street, New Haven, CT 06520, United States.
Forensic Science International. Genetics
|June 13, 2022
Summary
A new panel of 24 microhaplotypes (MHs) offers superior forensic individualization and population distinction compared to standard CODIS short tandem repeat (STR) markers. This MH panel, suitable for massively parallel sequencing, promises enhanced casework applications, especially when multiplexed with STRs.
Area of Science:
- Forensic genetics
- Population genetics
- Molecular biology
Background:
- Standard forensic casework relies on short tandem repeat (STR) markers, but their discriminatory power can be limited.
- Single nucleotide polymorphisms (SNPs) and insertion-deletion markers (InDels) present technical challenges for widespread casework adoption.
- Microhaplotypes (MHs) offer high information content per locus but traditionally require specialized genotyping methods like massively parallel sequencing (MPS).
Purpose of the Study:
- To evaluate a novel panel of 24 microhaplotypes (MHs) for forensic casework applications.
- To compare the discriminatory power and population informativeness of the MH panel against an augmented panel of 24 STR loci.
- To assess the potential of MHs for improving mixture analyses in forensic investigations.
Main Methods:
- Development and characterization of a 24-locus microhaplotype (MH) panel selected for high effective number of alleles (Ae).
- Comparison of the MH panel with an augmented STR panel (20 CODIS + 4 common STRs) using Ae and ancestry informativeness (In) metrics.
- Analysis of potential utility in forensic casework, including mixture interpretation.
Main Results:
- The 24-locus MH panel demonstrated higher effective number of alleles (Ae) and ancestry informativeness (In) compared to the augmented STR panel.
- The MH panel showed superior individualization and population distinction capabilities.
- The MH panel is predicted to perform better than STRs in analyzing complex forensic mixtures.
Conclusions:
- A panel of 24 microhaplotypes (MHs) provides enhanced discriminatory power for forensic identification compared to current STR marker sets.
- MHs, particularly when typed via massively parallel sequencing (MPS) and multiplexed with STRs, are poised for greater integration into forensic casework.
- A commercial kit combining standard CODIS markers with the proposed 24 MHs would significantly advance forensic analysis capabilities.
