More comprehensive forensic genetic marker analyses for accurate human remains identification using massively parallel DNA sequencing

BMC Genomics

Research

Mourad Assidi¹  Abdelbaset Buhmeida¹  Muhammad Abu-Elmagd¹  Harrell Gill-King²  Angie D. Ambers³  Jonathan L. King³  Jennifer D. Churchill³  Bruce Budowle⁴  Monika Stoljarova⁵ 

[1] Center of Excellence in Genomic Medicine Research (CEGMR), King Abdulaziz University, Jeddah, Saudi Arabia;Department of Biological Sciences, Laboratory of Forensic Anthropology, Center for Human Identification, University of North Texas, 1511 W. Sycamore, Denton, TX, USA;Institute of Applied Genetics, Department of Molecular and Medical Genetics, University of North, Texas Health Science Center, 3500 Camp Bowie Boulevard, Fort Worth, TX, USA;Institute of Applied Genetics, Department of Molecular and Medical Genetics, University of North, Texas Health Science Center, 3500 Camp Bowie Boulevard, Fort Worth, TX, USA;Center of Excellence in Genomic Medicine Research (CEGMR), King Abdulaziz University, Jeddah, Saudi Arabia;Institute of Applied Genetics, Department of Molecular and Medical Genetics, University of North, Texas Health Science Center, 3500 Camp Bowie Boulevard, Fort Worth, TX, USA;Institute of Gene Technology, Department of Molecular Diagnostics, Tallinn University of Technology, Akadeemia tee 15A-604, 12618, Tallinn, Estonia;

关键词: Human skeletal remains;    Massively parallel sequencing (MPS);    Phenotype-informative SNPs;    Y-STRs;    Mitochondrial DNA;    Ancestry-informative markers (AIMS);   

DOI  :  10.1186/s12864-016-3087-2

来源: Springer

【 摘 要 】

BackgroundAlthough the primary objective of forensic DNA analyses of unidentified human remains is positive identification, cases involving historical or archaeological skeletal remains often lack reference samples for comparison. Massively parallel sequencing (MPS) offers an opportunity to provide biometric data in such cases, and these cases provide valuable data on the feasibility of applying MPS for characterization of modern forensic casework samples. In this study, MPS was used to characterize 140-year-old human skeletal remains discovered at a historical site in Deadwood, South Dakota, United States. The remains were in an unmarked grave and there were no records or other metadata available regarding the identity of the individual. Due to the high throughput of MPS, a variety of biometric markers could be typed using a single sample.ResultsUsing MPS and suitable forensic genetic markers, more relevant information could be obtained from a limited quantity and quality sample. Results were obtained for 25/26 Y-STRs, 34/34 Y SNPs, 166/166 ancestry-informative SNPs, 24/24 phenotype-informative SNPs, 102/102 human identity SNPs, 27/29 autosomal STRs (plus amelogenin), and 4/8 X-STRs (as well as ten regions of mtDNA). The Y-chromosome (Y-STR, Y-SNP) and mtDNA profiles of the unidentified skeletal remains are consistent with the R1b and H1 haplogroups, respectively. Both of these haplogroups are the most common haplogroups in Western Europe. Ancestry-informative SNP analysis also supported European ancestry. The genetic results are consistent with anthropological findings that the remains belong to a male of European ancestry (Caucasian). Phenotype-informative SNP data provided strong support that the individual had light red hair and brown eyes.ConclusionsThis study is among the first to genetically characterize historical human remains with forensic genetic marker kits specifically designed for MPS. The outcome demonstrates that substantially more genetic information can be obtained from the same initial quantities of DNA as that of current CE-based analyses.

【 授权许可】

CC BY   
© The Author(s). 2016