Population Studies Conducted by the NIST Forensics/Human Identity Project Team
Team Members: John M. Butler (Project Leader), Margaret C. Kline, Janette W. Redman, Peter M. Vallone, Amy E. Decker, Carolyn R. "Becky" Hill, David L. Duewer (Analytical Chemistry Division)
$Funding from the National Institute of Justice through the NIST Office of Law Enforcement Standards
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. 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]
Autosomal STRs - 15 Loci and amelogenin using the Identifiler kit (Applied Biosystems)
- allele frequencies published in J. Forensic Sci. July 2003; 48(4):908-911
- Raw Data as Excel file
Autosomal STRs - 15 Loci and amelogenin using the PowerPlex kit (Promega Corporation)
- Raw Data as Excel file
miniSTR data - 8 Loci and amelogenin using the MiniFiler kit (Applied Biosystems)
- Hill et al. (2007) Concordance study between the AmpFlSTR MiniFiler PCR Amplification Kit and conventional STR typing kits. submitted.
- Raw Data as Excel file
miniSTR data - 12 of CODIS STR loci as reduced size PCR products
- data collected by our collaborators at Ohio University (Bruce McCord and students)
- comparison to Identifiler kit data published in Journal of Forensic Sciences, July 2004, 49(4):859-860.
New STR and miniSTR data - originally 6 and now 26 non-CODIS (NC) STR loci as reduced size PCR products
- Information on new STR loci available at http://www.cstl.nist.gov/biotech/strbase/newSTRs.htm
- presentation by Mike Coble at the American Academy of Forensic Sciences meeting in Dallas (February 20, 2004)
- allele frequencies and data analysis published in Coble and Butler J. Forensic Sci., Jan 2005, 50(1):43-53.
- presentation by Mike Coble at the International Society of Forensic Genetics meeting in Ponta Delgada, Azores (September 14, 2005)
- poster by Becky Hill at the American Academy of Forensic Sciences meeting in Seattle (February 24, 2006)
- presentation by Mike Coble at Forensic E-symposium (http://www.forensic.e-symposium.com/humid/) (February 28, 2006)
- Allele Frequencies for 26 miniSTR Loci (format of JFS FOR THE RECORD article)
- Raw Data as Excel file
- primer sequences and detailed locus information available in Hill et al. (2006), submitted [preprint]
Autosomal SNPs - 70 Loci in 12 NIST multiplexes based on Orchid Cellmark information
- allele frequencies published in Vallone et al. (2005) Forensic Sci. Int. 149: 279-286.
- U.S. Caucasian (N=74)
- African American (N=71)
- U.S. Hispanic (N=44)
- data collected on 660 U.S. samples with 12 autosomal SNP loci - Vallone et al. (2006) Progress in Forensic Genetics 11, International Congress Series 1288, 61-63
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)
- papers in preparation describing sequence information