Participants: John M. Butler, Margaret C. Kline, Peter M. Vallone, Janette W. Redman, Amy E. Decker, Jill E. Appleby, 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: http://www.cstl.nist.gov/biotech/strbase/NISTpop.htm.
A number of manuscripts (see below) have been published or submitted describing the results across these samples. As of early 2005, over 95,000 allele calls have been made on these samples.
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: http://www.appliedbiosystems.com/yfilerdatabase/.
Publications Resulting From This Project:
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.
Vallone, P.M., and Butler, J.M. (2004) Multiplexed assays for evaluation of Y-SNP markers in U.S. populations. Progress in Forensic Genetics 10, Elsevier Science: Amsterdam, The Netherlands, International Congress Series 1261, 85-87.
Butler, J.M., and Schoske, R. (2004) Forensic value of the multi-copy Y-STR marker DYS464. Progress in Forensic Genetics 10, Elsevier Science: Amsterdam, The Netherlands, International Congress Series 1261, 278-280.
Vallone, P.M. and Butler, J.M. (2004) Y-SNP typing of U.S. African American and Caucasian samples using allele-specific hybridization and primer extension. J. Forensic Sci. 49(4): 723-732.
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.
Coble, M.D., and Butler, J.M. (2005) Characterization of new miniSTR loci to aid analysis of degraded DNA. J. Forensic Sci. 50(1): 43-53.
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.
Butler, J.M., Appleby, J.E., and Duewer, D.L. (2004) Locus-specific brackets for reliable typing of Y-chromosome short tandem repeat markers. Electrophoresis, 26: 2583-2590.
Butler, J.M., and Schoske, R. (2005) U.S. population data for the multi-copy Y-STR locus DYS464. J. Forensic Sci. 50(4): 975-977.
Butler, J.M., Decker, A.E., Vallone, P.M., and Kline, M.C. (2004) Allele frequencies for 27 Y-STR loci with U.S. Caucasian, African American, and Hispanic samples. Forensic Sci. Int., in press.
This is a National Institute of Justice funded project conducted by the National Institute of Standards and Technology Human Identity Team. This project is supported by Grant Numbers 1999-IJ-R-A094 and 2003-IJ-R-029, which is an interagency agreement between NIJ and the NIST Office of Law Enforcement Standards, awarded by NIJ, Office of Justice Programs, U.S. 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 U.S. 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 NIST nor does it imply that any of the materials, instruments, or equipment identified are necessarily the best available for the purpose.
