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Document Type |
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Article In Journal |
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Document Title |
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More comprehensive forensic genetic marker analyses for accurate human remains identification using massively parallel DNA sequencing More comprehensive forensic genetic marker analyses for accurate human remains identification using massively parallel DNA sequencing |
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Document Language |
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English |
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Abstract |
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Background: Although 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.
Results: Using 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.
Conclusions: This 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. |
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ISSN |
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1471-2164 |
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Journal Name |
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BMC genomics |
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Volume |
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17 |
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Issue Number |
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9 |
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Publishing Year |
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1437 AH
2016 AD |
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Article Type |
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Article |
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Added Date |
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Monday, July 17, 2017 |
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Researchers
| Angie D. Ambers | Ambers, Angie D. | Researcher | Doctorate | |
| Jennifer D. Churchill | Churchill, Jennifer D. | Researcher | Doctorate | |
| Jonathan L. King | King, Jonathan L. | Researcher | Doctorate | |
| Monika Stoljarova | Stoljarova, Monika | Researcher | Doctorate | |
| Harrell Gill-King | Gill-King, Harrell | Researcher | Doctorate | |
| Mourad Assidi | Assidi, Mourad | Researcher | Doctorate | |
| Muhammad Abu-Elmagd | Abu-Elmagd, Muhammad | Researcher | Doctorate | |
| Abdelbaset Buhmeida | Buhmeida, Abdelbaset | Researcher | Doctorate | |
| Bruce Budowle | Budowle, Bruce | Researcher | Doctorate | |
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