Highlights
- •14 SNPs easily differentiate Europeans, East Asians and Africans.
- •Assays’ discrimination performance is dependent on availability of reference samples.
- •Siberians differ significantly in proportion of admixture pattern.
Abstract
During every criminal investigation, it is vital to extract as much information as
possible from every piece of evidence. When it comes to DNA testing, simple short
tandem repeat (STR) typing may soon become a relic because it is now possible to genotype
more characteristics. Ancestry informative markers are receiving attention from the
forensic community because individuals can be assigned to their population or territory
of origin based on their analysis. Many panels of this kind have been proposed so
far, yet most of them require typing of a large number of loci. In many cases it is
crucial to pick a minimal set of the most informative markers due to the limited amount
of material available for analysis. In this study, we demonstrate that 14 carefully
picked SNPs combined in two multiplex assays are capable of fast, robust and cost
effective three-way differentiation of East Asians, Europeans and Africans.
Keywords
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to Forensic Science International: GeneticsAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- Inferring genetic ancestry: opportunities, challenges, and implications.Am. J. Hum. Genet. 2010; 86: 661-673
- Genetic ancestry and the search for personalized genetic histories.Nat. Rev. Genet. 2004; 5: 611-618
- Skin pigmentation, biogeographical ancestry and admixture mapping.Hum. Genet. 2003; 112: 387-399
- Sequences associated with human iris pigmentation.Genetics. 2003; 165: 2071-2083
- Molecular Photofitting: Predicting Ancestry and Phenotype from DNA.Academic Press Publishers, Amsterdam2008
- Deconstructing the relationship between genetics and race.Nat. Rev. Genet. 2004; 5: 598-609
- Inference of human continental origin and admixture proportions using a highly discriminative ancestry informative 41-SNP panel.Investig. Genet. 2013; 4: 13
- Progress toward an efficient panel of SNPs for ancestry inference.Forensic Sci. Int. Genet. 2014; 10: 23-32
- Eurasiaplex: a forensic SNP assay for differentiating European and South Asian ancestries.Forensic Sci. Int. Genet. 2013; 7: 359-366
- SNPforID Consortium: inferring ancestral origin using a single multiplex assay of ancestry-informative marker SNPs.Forensic Sci. Int. Genet. 2007; 1: 273-280
- Ethnic affiliation estimation by use of population-specific DNA markers.Am. J. Hum. Genet. 1997; 60: 957-964
- Estimating African American admixture proportions by use of population-specific alleles.Am. J. Hum. Genet. 1998; 63: 1839-1851
- Measures of human population structure show heterogeneity among genomic regions.Genome Res. 2005; 15: 1468-1476
- Informativeness of genetic markers for inference of ancestry.Am. J. Hum. Genet. 2003; 73: 1402-1422
- A classifier for the SNP-based inference of ancestry.J. Forensic Sci. 2003; 48: 771-782
- The genetic architecture of normal variation in human pigmentation: an evolutionary perspective and model.Hum. Mol. Genet. 2006; 15: R176-R181
- Signatures of positive selection in genes associated with human skin pigmentation as revealed from analyses of single nucleotide polymorphisms.Ann. Hum. Genet. 2007; 71: 354-369
- Identifying genes underlying skin pigmentation differences among human populations.Hum. Genet. 2007; 120: 613-621
- Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression.Hum. Genet. 2008; 123: 177-187
- Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.Am. J. Hum. Genet. 2008; 82: 411-423
- Two newly identified genetic determinants of pigmentation in Europeans.Nat. Genet. 2008; 40: 835-837
- Many sequence variants affecting diversity of adult human height.Nat. Genet. 2008; 40: 609-615
- A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickness.Hum. Mol. Genet. 2008; 17: 835-843
- Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form.Hum. Mutat. 2008; 29: 1405-1411
- Proportioning whole-genome single-nucleotide-polymorphism diversity for the identification of geographic population structure and genetic ancestry.Am. J. Hum. Genet. 2006; 78: 680-690
- PCA-correlated SNPs for structure identification in worldwide human populations.PLoS Genet. 2007; 3: 1672-1686
- A panel of ancestry informative markers for estimating individual biogeographical ancestry and admixture from four continents: utility and applications.Hum. Mutat. 2008; 29: 648-658
- An ancestry informative marker set for determining continental origin: validation and extension using human genome diversity panels.BMC Genet. 2009; 10: 39
- Primer3 – new capabilities and interfaces.Nucleic Acids Res. 2012; 40: e115
- Comparison of measures of marker informativeness for ancestry and admixture mapping.BMC Genomics. 2011; 12: 622
- FSTAT Version 1.2: a computer program to calculate F-statistics.J. Hered. 1995; 86: 485-486
- Arlequin suite ver 3.5: a new series of programs to perform population genetics analyses under Linux and Windows.Mol. Ecol. Resour. 2010; 10: 564-567
- Molecular evolutionary genetics.Columbia University Press, New York1987
- Inference of population structure using multilocus genotype data.Genetics. 2000; 155: 945-959
- Inference of population structure using multilocus genotype data: linked loci and correlated allele frequencies.Genetics. 2003; 164: 1567-1587
- DISTRUCT: a program for the graphical display of population structure.Mol. Ecol. Notes. 2004; 4: 137-138
- Diversity of mitochondrial DNA lineages in South Siberia.Ann. Hum. Genet. 2003; 67: 391-411
- Contrasting patterns of Y-chromosome variation in South Siberian populations from Baikal and Altai-Sayan regions.Hum. Genet. 2006; 118: 591-604
- Phylogeographic analysis of mitochondrial DNA in northern Asian populations.Am. J. Hum. Genet. 2007; 81: 1025-1041
- Straightforward inference of ancestry and admixture proportions through ancestry-informative insertion deletion multiplexing.PLoS ONE. 2012; 7: e29684
- Building a forensic ancestry panel from the ground up: the EUROFORGEN Global AIM-SNP set.Forensic Sci. Int. Genet. 2014; 11: 13-25
- Ethnic-difference markers for use in mapping by admixture linkage disequilibrium.Am. J. Hum. Genet. 2002; 70: 737-750
- Revision of the SNPforID 34-plex forensic ancestry test: assay enhancements, standard reference sample genotypes and extended population studies.Forensic Sci. Int. Genet. 2013; 7 (doi:10.1016/j.fsigen.2012.06.007): 63-74
- Inference of population splits and mixtures from genome-wide allele frequency data.PLoS Genet. 2012; 8 (doi:10.1371/journal.pgen.1002967): e1002967
- Analyses of a set of 128 ancestry informative single-nucleotide polymorphisms in a global set of 119 population samples.Investig. Genet. 2011; 2: 1
Electronic resources cited
Article info
Publication history
Published online: September 25, 2014
Accepted:
September 14,
2014
Received in revised form:
August 27,
2014
Received:
April 19,
2014
Identification
Copyright
© 2014 Elsevier Ireland Ltd. Published by Elsevier Inc. All rights reserved.
