Genetic Variation in Major U.S. Population Groups Using Human Identity Testing Markers


Participants: John M. Butler, Margaret C. Kline, Peter M. Vallone, Janette W. Redman, Amy E. Decker, Carolyn R. Hill, Richard Schoske, and Michael D. Coble


Project Timeframe: June 2002 to present



Purpose: To examine the ability of commonly used and new genetic markers to differentiate between individuals present in major U.S. populations.


Progress: A set of approximately 650 anonymous population samples from U.S. Caucasians, African Americans, and Hispanics (self-declared ethnicities) were purchased from a commercial blood bank after obtaining NIST institutional review board approval. These samples have been characterized across a variety of genetic loci used in human identity testing. Results from these samples are being used to evaluate performance of individual markers and various combinations of loci to enable differentiation of the samples. Concordance studies have also been performed with these samples between in-house multiplex polymerase chain reaction (PCR) assays and commercial kits to verify the absence of allelic dropout due to PCR primer binding site mutations. Information collected from these samples is being made available over the Internet through the NIST STRBase Web site:


These population samples will likely become some of the most well-characterized samples in the world. Decisions are being made about useful loci to pursue in future assays that are developed at NIST based on variation observed in these samples. These samples have also been useful in a beta-test of a new commercial kit for Y-chromosome short tandem repeat (Y-STR) amplification released in December 2004 by Applied Biosystems and are part of the YFiler Haplotype Database: Likewise, the MiniFiler kit was checked for concordance and potential allele dropout with these NIST samples.


A number of manuscripts (see below) have been published describing the results across these samples. As of 2007, over 120,000 allele calls have been made on these samples. In some cases, these samples have also been shared with collaborators in order to further characterize them.



Publications or Presentations Resulting From This Project (selected):

Butler, J.M., Schoske, R., Vallone, P.M., Redman, J.W., and Kline, M.C. (2003) Allele frequencies for 15 autosomal STR loci on U.S. Caucasian, African American, and Hispanic populations. J. Forensic Sci. 48(4): 908-911.

Schoske, R., Vallone, P.M., Kline, M.C., Redman, J.W., and Butler, J.M. (2004) High-throughput Y-STR typing of U.S. populations with 27 regions of the Y chromosome using two multiplex PCR assays. Forensic Sci. Int. 139: 107-121.

Drabek, J., Chung, D.T., Butler, J.M., and McCord, B.R. (2004) Concordance study between miniplex STR assays and a commercial STR typing kit. J. Forensic Sci. 49(4): 859-860.

Vallone, P.M., Decker, A.E., and Butler, J.M. (2005) Allele frequencies for 70 autosomal SNP loci with U.S. Caucasian, African American, and Hispanic samples. Forensic Sci. Int. 149: 279-286

Kline, M.C., Vallone, P.M., Redman, J.W., Duewer, D.L., Calloway, C.D., and Butler, J.M. (2005) Mitochondrial DNA typing screens with control region and coding region SNPs. J. Forensic Sci. 50: 377-385.

Hill, C.R., Kline, M.C., Mulero, J.J., Lagace, R.E., Chang, C.-W., Hennessy, L.K., Butler, J.M. (2007) Concordance study between the AmpFlSTR MiniFiler PCR Amplification Kit and conventional STR typing kits. J. Forensic Sci. 52(4): 870-873. 

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Last updated: 06/20/2007


Disclaimer: This project was supported by National Institute of Justice Grant Number 2003-IJ-R-029, which is an interagency agreement between NIJ and the NIST Office of Law Enforcement Standards, awarded by the National Institute of Justice, Office of Justice Programs, US Department of Justice. Points of view in this document are those of the authors and do not necessarily represent the official position or policies of the US Department of Justice. Certain commercial equipment, instruments and materials are identified in order to specify experimental procedures as completely as possible.  In no case does such identification imply a recommendation or endorsement by the National Institute of Standards and Technology nor does it imply that any of the materials, instruments or equipment identified are necessarily the best available for the purpose.