Population Studies Conducted by the NIST Forensics/Human Identity Project Team
Team Members: John M. Butler (Forensic DNA Project Leader), Erica L.R. Butts, Michael D. Coble, David L. Duewer (Chemical Sciences Division), Carolyn R. "Becky" Hill, Kevin Kiesler, Margaret C. Kline, Peter M. Vallone (DNA Biometrics Project Leader)
Former Team Members: Kristen Lewis O'Connor (NRC postdoc 2009-2011), Janette W. Redman (retired Jan 2011), Amy Decker Hazelwood (to AFDIL in Nov 2009)
$Funding from the National Institute of Justice through the NIST Office of Law Enforcement Standards and the FBI Biometric Center of Excellence through the NIST Information Access Division
During the summer of 2002, our project team obtained over 600 anonymous male samples from Interstate Blood Bank (Memphis, TN) in the form of liquid blood. There are also 37 anonymous male DNA samples from Millennium Biotech (Ft. Lauderdale, FL). These samples, which come from U.S. Caucasian, African American, and Hispanic males (self-identified), were subjected to a bulk extraction in order to obtain microgram to milligram quantities of DNA for each individual. In 2007, a set of anonymous 800 father/son samples from U.S. Caucasian, African American, Hispanic, and Asian individuals were provided to NIST from DNA Diagnostics Center (Fairfield, OH). We have an ongoing effort with these samples to examine a number of DNA markers that are used or may be used in the future for human identity testing applications. DNA typing information on these samples is described below:
DNA Data [Autosomal Markers] [Y-Chromosome Markers] [Mitochondrial DNA]
NIST 1036 U.S.
Population Dataset - 29 autosomal STR loci and
23 Y-STR loci
Autosomal STRs - 15 Loci and amelogenin using the Identifiler kit (Applied Biosystems)
Autosomal STRs - 15 Loci and amelogenin using the PowerPlex kit (Promega Corporation)
Autosomal STRs - 16 Loci and amelogenin using the PowerPlex ESX 17 & ESI 17 kits (Promega Corporation)
miniSTR data - 8 Loci and amelogenin using the MiniFiler kit (Applied Biosystems)
miniSTR data - 12 of CODIS STR loci as reduced size PCR products
New STR and miniSTR data - originally 6 and now 26 non-CODIS (NC) STR loci as reduced size PCR products
Autosomal SNPs - 70 Loci in 12 NIST multiplexes based on Orchid Cellmark information
Autosomal SNPs - SNPforID 34-plex ancestry test
Fondevila, M. et al. (2012) Revision of the SNPforID 34-plex forensic ancestry test: assay enhancements, standard reference sample genotypes and extended population studies. Forensic Sci. Int. Genet. (in press). doi:10.1016/j.fsigen.2012.06.007
Autosomal Insertion/Deletion Markers - 68 InDel markers including Qiagen's DIPlex assay
Fondevila, M. et al. (2012) Forensic performance of two insertion-deletion marker assays. Int. J. Legal Med. 126(5): 725-737.
Y-STRs - 22 Loci using 2 NIST multiplexes (20plex) (11plex)
- data analysis published in Schoske et al. Forensic Sci. Int. January 2004; 139:107-121
- African American (N=260) Haplotypes
- U.S. Caucasian (N=244) Haplotypes
- U.S. Hispanic (N=143) Haplotypes
- some concordance studies performed on these same samples with commercial STR kits from ReliaGene, Promega, and Applied Biosystems
- DYS464 expanded types summarized in Butler and Schoske July 2005, J. Forensic Sci. 50(4): 975-977.
Yfiler - commercial Y-STR kit from Applied Biosystems that amplifies 17 loci
- data part of Yfiler haplotype database: http://www.appliedbiosystems.com/yfilerdatabase/
- Excel file with full 17-locus Yfiler haplotypes (N=661)
- data from 389 sons published in Decker et al. (2007) Analysis of mutations in father-son pairs with 17 Y-STR loci. FSI Genetics (in press)
New Y-STR Loci - 27 additional loci
- data being collected on new polymorphic Y-STRs reported by Kayser et al. (2004) Am. J. Hum. Genet. 74(6):1183-1197
- First data set includes the following loci: DYS444, DYS446, DYS449, DYS463, DYS485, DYS490, DYS495, DYS504, DYS505, DYS508, DYS520, DYS522, DYS525, DYS532, DYS533, DYS534, DYS540, DYS556, DYS557, DYS570, DYS575, DYS576, DYS594, DYS632, DYS635 (GATA-C4), DYS641, and DYS643.
- allele frequencies for 260 U.S. Caucasians, 260 African Americans and 140 U.S. Hispanics or a subset of 31 Caucasians, 32 African Americans, and 32 Hispanics to be published in Butler et al. (2006) Forensic Sci. Int. 156:250-260
- U.S. Caucasian (N = 260) new loci + Yfiler
- African American (N = 258) new loci + Yfiler
- U.S. Hispanic (N = 139) new loci + Yfiler
Y-SNPs - 50 Loci using Marligen Signet kit and 3 NIST multiplexes
- allele frequencies and data analysis published in Vallone and Butler J. Forensic Sci. July 2004, 49(4): 723-732
- U.S. Caucasian (N=114)
- African American (N=115)
mtDNA Typing - 10 HVI/HVII sites probed with LINEAR ARRAYS (Roche)
- poster presented at 14th International Symposium on Human Identification (Sept 29-Oct 2, 2003)
- data reviewed in presentation by John Butler at AAFS mtDNA workshop (Feb 16, 2004)
- data analysis published in Kline et al.(2005) J. Forensic Sci. 50: 377-385
- Excel file with mitotypes observed for U.S. Caucasian (N=286), African American (N=252), and U.S. Hispanic (N=128)
- comparison of mitotypes with control region sequencing published in Coble et al. (2006) submitted [preprint]
mtDNA Sequencing - control region sequences and entire mtGenome
- data collected by our collaborators at the Armed Forces DNA Identification Laboratory (Tom Parsons and coworkers)
Saunier, J.L. et al. (2008) Mitochondrial control region sequences from a U.S. “Hispanic” population sample. Forensic Sci. Int. Genet. 2(2), e19-23.
Just, R.S. et al. (2008) Complete mitochondrial genome sequences for 265 African American and U.S. “Hispanic” individuals. Forensic Sci. Int. Genet. 2(3), e45-48.
Diegoli, T.M. et al. (2009) Mitochondrial control region sequences from an African American population sample. Forensic Sci. Genet. 4(1), e45-52.
Last Updated: 11/27/2012