Forensic DNA: Y-Chromosome

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Description

The Y chromosome DNA testing enables examination of the male-specific portion of biological evidence. This capability can be especially important in situations where a small amount of male DNA may be recovered in the presence of excess female DNA, such as in sexual assault evidence. Y chromosome analysis can also benefit missing persons investigations as it extends the range of potential reference samples. Since fathers pass their Y chromosome onto their sons unchanged (except for an occasional mutation), all males in a paternal lineage will possess a common Y chromosome haplotype.

A core set of Y chromosome short tandem repeat (Y-STR) loci have been selected for use in human identification applications. The core Y-STR loci were recommended by the SWGDAM Y chromosome subcommittee in 2003 and include the following: DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS438, DYS439, and the multi-copy locus DYS385 a/b. Commercial kits now exist that can co-amplify all of the core Y-STR loci in a single multiplex reaction. Several groups are also exploring additional Y-STR loci that have the potential to improve the power of discrimination for Y-STR testing.

Research Projects

The table below presents awards funded both prior to and under the DNA Initiative, which began in 2004.

Title Awardee Amount Award Number
Y Chromosome Whole Genome Analysis Strategies: Improved Detection of Male DNA University of Central Florida 2007-DN-BX-K147 $324,705
Forensic Applications of Y-Chromosome STR's and SNP's Arizona Board of Regents, University of Arizona 2000-IJ-CX-K006 $430,140
Forensic Applications of Y-Chromosome STR's and SNP's Arizona Board of Regents, University of Arizona 2000-IJ-CX-K006 $551,418
Validation of Y Chromosome STR Multiplexes for Operational Use University of Central Florida 1998-IJ-CX-K003 $519,964
Development of the Human Y Chromosome as a Forensic Tool University of Arizona 1997-LB-VX-0010 $147,529

Research Articles and Reports

Select a title to view an abstract from PubMed database (National Library of Medicine's) unless a different file type is indicated.

Title Authors Publication Year Awardee Award Number
The golden gene (SLC24A5) differentiates US sub-populations within the ethnically admixed Y-SNP haplogroups Sims LM, Ballantyne J Leg Med (Tokyo). 2008 Mar; 10(2):72-7. Epub 2007 Aug 27 2008 University of Central Florida 1998-IJCX-K003
Y-STR profiling in extended interval (> or = 3 days) postcoital cervicovaginal samples Mayntz-Press KA, Sims LM, Hall A, Ballantyne J J Forensic Sci. 2008 Mar;53(2):342-8 2008 University of Central Florida 1998-IJCX-K003
A rare Y chromosome missense mutation in exon 25 of human USP9Y revealed by pyrosequencing Sims LM, Ballantyne J Biochem Genet. 2008 Apr; 46(3-4):154-61. Epub 2008 Jan 20 2008 University of Central Florida 1998-IJCX-K003
Analysis of mutations in father-son pairs with 17 Y-STR loci Decker, A.E., Kline, M.C., Redman, J.W., Reid, T.M., Butler, J.M. FSI Genetics (2008) 2(3):e31-e35. 2008 NIST 2003-IJ-R-029
Sub-populations within the major European and African derived haplogroups R1b3 and E3a are differentiated by previously phylogenetically undefined Y-SNPs. Sims LM, Garvey D, Ballantyne J. Hum Mutat. 2007 Jan; 28(1):97. 2007 University of Central Florida 1998-IJCX-K003
The impact of additional Y-STR loci on resolving common haplotypes and closely related individuals A.E. Decker, M.C. Kline, P.M. Vallone, J.M. Butler Forensic Science International: Genetics June 2007 (Vol. 1, Issue 2, Pages 215-217) 2007 NIST 2003-IJ-R-029
Population data for a novel, highly discriminating tetra-local Y-chromosome short tandem repeat: DYS503. Hanson EK, Ballantyne J. J Forensic Sci. 2007 Mar; 52(2):498-9. 2007 University of Central Florida 1998-IJCX-K003
Performance characteristics of commercial Y-STR multiplex systems. Mayntz-Press KA, Ballantyne J. J Forensic Sci. 2007 Sep; 52(5):1025-34. Epub 2007 Aug 6. 2007 University of Central Florida 1998-IJCX-K003
An ultra-high discrimination y chromosome short tandem repeat multiplex DNA typing system. Hanson EK, Ballantyne J. PLoS ONE. 2007 Aug 1; 2(1):e688. 2007 University of Central Florida 1998-IJCX-K003
The impact of additional Y-STR loci on resolving common haplotypes and closely related individuals A.E. Decker, M.C. Kline, P.M. Vallone, J.M. Butler Forensic Science International: Genetics June 2007 (Vol. 1, Issue 2, Pages 215-217) 2007 NIST 2003-IJ-R-029
Population data for 48 'Non-Core' Y chromosome STR loci. Hanson EK, Ballantyne J. Leg Med (Tokyo). 2007 Jul; 9(4):221-31. Epub 2007 Feb 22. 2007 University of Central Florida 1998-IJCX-K003
Forensic Applications of Y Chromosome STRs and SNPs (pdf, 51 pages) Michael Hammer and Alan J. Redd Final Grant Report 2006 Arizona Board of Regents, University of Arizona 2000-IJ-CX-K006
Comprehensive annotated STR physical map of the human Y chromosome: Forensic implications Hanson EK, Ballantyne J Legal Medicine. 2006 Mar; 8(2):110-20 2006 University of Central Florida 1998-IJ-CX-K003
Genetic structure among 38 populations from the United States based on 11 U.S. core Y chromosome STRs. Redd AJ, Chamberlain VF, Kearney VF, Stover D, Karafet T, Calderon K, Walsh B, Hammer MF. J Forensic Sci. 2006 May; 51(3):580-5. 2006 Arizona Board of Regents, University of Arizona 2000-IJ-CX-K006
Testing and evaluation of 43 "noncore" Y chromosome markers for forensic casework applications. Hanson EK, Berdos PN, Ballantyne J. J Forensic Sci. 2006 Nov; 51(6):1298-314. 2006 University of Central Florida 1998-IJ-CX-K003
Allele frequencies for 27 Y-STR loci with U.S. Caucasian, African American, and Hispanic samples. Butler JM, Decker AE, Vallone PM, Kline MC. Forensic Sci Int. 2006 Jan 27; 156(2-3):250-60. 2006 National Institute of Standards and Technology 2003-IJ-R-029
Y-STR concordance study between Y-Plex5, Y-Plex6, Y-Plex12, PowerplexY, Y-Filer, MPI, and MPII. Gross AM, Berdos P, Ballantyne J J Forensic Sci. 2006 Nov; 51(6):1423-8. 2006 University of Central Florida 1998-IJ-CX-K003
U.S. population data for the multi-copy Y-STR locus DYS464. Butler JM, Schoske R. J Forensic Sci. 2005 Jul; 50(4):975-7 2005 National Institute of Standards and Technology 2003-IJ-R-029
DNA Commission of the International Society of Forensic Genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis. Gusmao L, Butler JM, Carracedo A, Gill P, Kayser M, Mayr WR, Morling N, Prinz M, Roewer L, Tyler-Smith C, Schneider PM. Int J Legal Med. 2005 Aug 26;:1-10 2005 National Institute of Standards and Technology 2003-IJ-R-029
Chromosomal duplications along the Y-chromosome and their potential impact on Y-STR interpretation. Butler JM, Decker AE, Kline MC, Vallone PM J Forensic Sci. 2005 Jul; 50(4):853-9. 2005 National Institute of Standards and Technology 2003-IJ-R-029
SWGDAM developmental validation of a 19-locus Y-STR system for forensic casework. Daniels DL, Hall AM, Ballantyne J. J Forensic Sci. 2004 Jul; 49(4):668-83. 2004 University of Central Florida 1998-IJ-CX-K003
High-throughput Y-STR typing of U.S. populations with 27 regions of the Y chromosome using two multiplex PCR assays. Schoske R, Vallone PM, Kline MC, Redman JW, Butler JM. Forensic Sci Int. 2004 Jan 28; 139(2-3):107-21. 2004 National Institute of Standards and Technology 1999-IJ-R-A094
Multiplexed assays for evaluation of Y-SNP markers in U.S. populations. (pdf, 3 pages) Vallone, P.M. and Butler, J.M. Progress in Forensic Genetics 10, Elsevier Science: Amsterdam, The Netherlands, International Congress Series 2004; 1261, 85-87. 2004 National Institute of Standards and Technology 1999-IJ-R-A094
A highly discriminating 21 locus Y-STR "megaplex" system designed to augment the minimal haplotype loci for forensic casework. Hanson EK, Ballantyne J. J Forensic Sci. 2004 Jan; 49(1):40-51. 2004 University of Central Florida 1998-IJ-CX-K003
Duplication of DYS19 flanking regions in other parts of the Y chromosome. Butler JM and Schoske R Int J Legal Med. 2004 Jun; 118(3):178-83 2004 National Institute of Standards and Technology 1999-IJ-R-A094
Y-SNP typing of U.S. African American and Caucasian samples using allele-specific hybridization and primer extension. Vallone PM, Butler JM. J Forensic Sci. 2004 Jul; 49(4):723-32. 2004 National Institute of Standards and Technology 1999-IJ-R-A094
Novel Y-STR typing strategies reveal the genetic profile of the semen donor in extended interval post-coital cervicovaginal samples. Hall A, Ballantyne J. Forensic Sci Int. 2003 Sep 9; 136(1-3):58-72 2003 University of Central Florida 1998-IJ-CX-K003
Highly multiplexed assays for measuring polymorphisms on the Y-chromosome (pdf, 5 pages) Butler HM, Schoske R, Vallone PM Progress in Forensic Genetics 9 (Brinkmann, B. and Carracedo, A., eds.), Elsevier Science: Amsterdamn, The Netherlands, International Congress Series 1239, pp. 301-305 2003 2003 National Institute of Standards and Technology 1999-IJ-R-A094
Recent developments in Y-short tandem repeat and Y-single nucleotide polymorphism analysis (pdf, 21 pages) Butler JM Forensic. Sci. Rev. 2003 15:91-111 2003 National Institute of Standards and Technology 1999-IJ-R-A094
The development of an 18-locus Y-STR system for forensic casework. Hall A, Ballantyne J. Anal Bioanal Chem. 2003 Aug; 376(8):1234-46. 2003 University of Central Florida 1998-IJ-CX-K003
Multiplex PCR design strategy used for the simultaneous amplification of 10 Y chromosome short tandem repeat (STR) loci. Schoske R, Vallone PM, Ruitberg CM, Butler JM. Anal Bioanal Chem. 2003 Feb; 375(3):333-43. 2003 National Institute of Standards and Technology 1999-IJ-R-A094
Forensic value of 14 novel STRs on the human Y chromosome. Redd AJ, Agellon AB, Kearney VA, Contreras VA, Karafet T, Park H, de Knijff P, Butler JM, Hammer MF. Forensic Sci Int. 2002 Dec 4; 130(2-3):97-111. 2002 Arizona Board of Regents, University of Arizona 2000-IJ-CX-K006
A novel multiplex for simultaneous amplification of 20 Y chromosome STR markers. Butler JM, Schoske R, Vallone PM, Kline MC, Redd AJ, Hammer MF. Forensic Sci Int. 2002 Sep 10; 129(1):10-24. 2002 Arizona Board of Regents, University of Arizona 2000-IJ-CX-K006
Locus-specific brackets for reliable typing of Y-chromosome short tandem repeat markers. Butler JM, Appleby JE, Duewer DL. J Forensic Sci. 2000 Jan;45(1):118-46. 2000 National Institute of Standards and Technology 2003-IJ-R-029
Date Modified: October 11, 2012