Sriwijaya Journal of Forensic and Medicolegal
Vol. 2 No. 2 (2024): Sriwijaya Journal of Forensic and Medicolegal

Forensic DNA Phenotyping of Externally Visible Characteristics and Biogeographic Ancestry in Indonesian Populations: A Cross-Sectional Validation Study

Rinna Azrida (Department of Biomedical Sciences, Deli Tua Research and Laboratory Center, Deli Serdang, Indonesia)
Febria Suryani (Department of Health Sciences, Emerald Medical Center, Jakarta, Indonesia)
Bjorka Alma (Department of Molecular Medicine, Ordubad State Hospital, Ordubad, Azerbaijan)
Sony Sanjaya (Department of Medical Biology, CMHC Research Center, Palembang, Indonesia)
Khairiel Anwar (Department of Biomolecular Science, CMHC Research Center, Palembang, Indonesia)



Article Info

Publish Date
30 Nov 2024

Abstract

Background. Forensic DNA phenotyping (FDP) infers externally visible characteristics (EVCs) and biogeographic ancestry (BGA) from DNA when no reference profile is available. How well it performs in Indonesian populations has been little characterised. Objective. To evaluate how accurately a single nucleotide polymorphism (SNP) panel predicts skin, iris and hair colour and broad regional ancestry in Indonesian adults. Methods. In this cross-sectional study, 1,000 unrelated adults from eight named ethnic groups and a composite group were genotyped at 20 pigmentation SNPs and 26 ancestry-informative markers by multiplex single-base extension. Colour categories were predicted with a multinomial logistic model calibrated to HIrisPlex-S, and ancestry zones (Western, Central/other, Eastern) with a random forest. Accuracy was compared with the no-information rate, the accuracy of always predicting the commonest class. Results. Skin colour was predicted correctly in 89.2% of participants (no-information rate 45.0%), iris colour in 82.0% (88.0%) and hair colour in 80.0% (72.0%). The area under the curve was 0.96 for dark skin, 0.88 for brown irises and 0.87 for black hair; sensitivity for non-brown irises was 52.5%. Overall, 83.7% of participants were assigned to their expected ancestry zone (no-information rate 66.5%); sensitivity for the Eastern zone was 80.0% (95% CI 60.9–91.1; n = 25). Conclusion. In this cohort, skin colour prediction clearly exceeded the baseline, whereas iris and hair colour prediction improved little on it. The panel may support investigative leads, but independent test samples are needed before casework use.

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Journal Info

Abbrev

SJFM

Publisher

Subject

Biochemistry, Genetics & Molecular Biology Health Professions Immunology & microbiology Law, Crime, Criminology & Criminal Justice Medicine & Pharmacology

Description

Focus Sriwijaya Journal of Forensic and Medicolegal (SJFM) focused on the development of medical sciences especially forensic and medicolegal for human well-being. Scope Sriwijaya Journal of Forensic and Medicolegal (SJFM) publishes articles which encompass all aspects of basic research/clinical ...