RT Journal Article
T1 Performance comparison of a previously validated microhaplotype panel and a forensic STR panel for DNA mixture analysis
A1 González-Bao, J.
A1 Mosquera Miguel, Ana
A1 Casanova Adán, Lucía
A1 Ambroa-Conde, A.
A1 Ruiz-Ramirez, J.
A1 Cabrejas-Olalla, A.
A1 Boullón-Cassau, M.
A1 Freire Aradas, Ana María
A1 Rodríguez-López, A.
A1 Roth, C.
A1 Lagacé, R.
A1 Phillips, C.
A1 Lareu Huidobro, María Victoria
A1 Puente Vila, María del Carmen de la
K1 Microhaplotypes
K1 STRs
K1 Mixture analysis
K1 Likelihood Ratio
K1 Forensic genetics
AB Short Tandem Repeats (STRs) are the most widespread markers in forensic genetics. However, STR stutter peaks can mask alleles from a minor contributor when analysing mixtures, hindering the interpretation of complex profiles. In this study we compared the performance of a previously described panel of microhaplotypes (MHs), an alternative type of forensic marker, against a standard STR kit. The parameters evaluated included: capability of determining the minimum number of contributors in the mixture; percentages of allele drop-outs and drop-ins; retrieval of alleles belonging to the minor contributor, and estimation of likelihood ratio (LR) values. In addition, the capacity of EuroForMix software to estimate each donor’s percentage of contribution was tested, as well as the impact on results when using manually, or automatically prepared libraries. The MH panel showed better performance than STRs for the detection of 2-contributor mixtures, but the lower degree of polymorphism per MH marker hindered the task of deconvolution with multiple contributors. MHs presented higher drop-in rates and lower drop-out rates, a higher capability to recover the minor contributor’s alleles and provided higher LR values than STRs, likely due to the much higher number of loci combined in the panel. Estimations of contributor ratios using EuroForMix showed promising results and marginal differences were found in these values between manually and automatically prepared libraries. Overall, results showed that the mixture detection performance of the MH panel was better or equal to the standard forensic autosomal STR panel, indicating microhaplotypes are informative markers for this purpose.
PB Elsevier
SN 1872-4973
YR 2024
FD 2024-09-07
LK https://hdl.handle.net/10347/39845
UL https://hdl.handle.net/10347/39845
LA eng
NO González-Bao, J., Mosquera-Miguel, A., Casanova-Adán, L., Ambroa-Conde, A., Ruiz-Ramírez, J., Cabrejas-Olalla, A., Boullón-Cassau, M., Freire-Aradas, A., Rodríguez-López, A., Roth, C., Lagacé, R., Phillips, C., Lareu, M. V., & de la Puente, M. (2025). Performance comparison of a previously validated microhaplotype panel and a forensic STR panel for DNA mixture analysis. Forensic Science International: Genetics, 7410.1016/j.fsigen.2024.103144
NO JGB is supported by predoctoral grant “Ayudas para la Formación del Profesorado Universitario” (reference FPU22/02683) funded by Ministerio de Universidades from Gobierno de España. LCA is supported by a predoctoral grant funded by “Fundación Caixa Rural Galega Tomás Notario Vacas” in collaboration agreement with the Universidade de Santiago de Compostela. JRR is supported by the “Programa de axudas á etapa predoutoral” funded by the Consellería de Cultura, Educación e Ordenación Universitaria and the Consellería de Economía, Emprego e Industria from Xunta de Galicia, Spain (ED481A-2020/039). MVL is supported by grant PID2019-107876RB-I00 funded by the Ministerio de Educación, Cultura y Ciencia, Spain (MCIN/AEI/ 10.13039/501100011033) and grant PID2022-141224OB-I00 funded by MCIN/AEI/ 10.13039/501100011033 and “ERDF A way of making Europe”. MdP is supported by grant IJC2020-042638-I funded by the Gobierno de España MCIN/AEI/10.13039/501100011033 and the European Union “NextGenerationEU/PRTR”.
DS Minerva
RD 24 abr 2026