Population Studies Conducted by the NIST Forensics/Human Identity Project Team

As of April 2013,  John M. Butler has moved to a new role supporting forensic science at NIST within the Office of Special Programs. The Human Identity Project Team is now under the direction of Peter M. Vallone, Applied Genetics Group Leader.

Team Members: Peter M. Vallone (Leader., Applied Genetics Group), Lisa Borsuk, Michael D. Coble, David L. Duewer (Chemical Sciences Division), Katherine Gettings, Kevin Kiesler, Margaret C. Kline, Sarah Riman, Erica Romsos, and Becky Steffen.

$Funding from the National Institute of Justice and the FBI Biometric Center of Excellence.

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

• Butler, J.M., Hill, C.R., Coble, M.D. (2012) Variability of new STR loci and kits in U.S. population groups. Profiles in DNA.
• Coble, M.D., Hill, C.R., Butler J.M. (2013) Haplotype data for 23 Y-chromosome markers in four U.S. population groups. Forensic Sci. Int. Genet. 7: e66-e68.
• Hill, C.R., Duewer, D.L., Kline, M.C., Coble, M.D., Butler, J.M. (2013) U.S. population data for 29 autosomal STR loci. Forensic Sci. Int. Genet. 7: e82-e83.

NIST 1036 Revised U.S. Population Dataset (July 2017)

Revisions were made to 13 of the 29 autosomal STR loci reported in Hill, C.R., Duewer, D.L., Kline, M.C., Coble, M.D., Butler, J.M. (2013) U.S. population data for 29 autosomal STR loci. Forensic Sci. Int. Genet. 7: e82-e83.

• Excel file of 1036 revised Genotypes
• Excel file of 1036 revised Allele Frequencies
  • August 2, 2017: editorial edit - In the “1036 revised all, n=1036” worksheet: The allele frequency table previously stated n=1036 for TPOX and PentaD.  This now reads 1035 for those two loci.  The combined frequencies were properly calculated using 1035 in the denominator, but the label in the cells (Y3 and AC3) now properly read 1035.
• Presentation describing the revisions in detail given at the NIST Forensic Science Error Management International Symposium July 25, 2017.
  • August 2, 2017: editorial edit - A few typos were fixed in the presentation.
• 2017 Letter to the Editor in press, Supplementary Table 1, Table 2, Table3
• Original dataset remains available as a supplemental file to the publication, and may also be requested by contacting Peter Vallone.

Autosomal Markers

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)

Autosomal STRs - 16 Loci and amelogenin using the PowerPlex ESX 17 & ESI 17 kits (Promega Corporation)

• allele frequencies published in Hill et al. (2011) Forensic Sci. Int. Genet.  5(4): 269-275
• Raw Data as Excel file (from article supplemental table S8)

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. J. Forensic Sci. 52(4): 870-873.
• 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 STRs - 47 Loci

• Information on commercial STR loci and additional autosomal STRs on 552 U.S. population samples published in Table 4 of Butler & Hill, Forensic Sci. Rev. 2012, 24:15-26.
• Genotype Data as Excel file

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

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-Chromosome Markers

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)

 

Mitochondrial DNA

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.

 

[top of page]

[Return to Home Page]

Last Updated: 09/23/2014