Y-Chromosome

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 the President's DNA Initiative, which began in 2004.

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Year    Title Awardee Amount Award Number
2007Y Chromosome Whole Genome Analysis Strategies: Improved Detection of Male DNAUniversity of Central Florida$324,7052007-DN-BX-K147
2004 Validation of Y Chromosome STR Multiplexes for Operational Use University of Central Florida $519,964 1998-IJ-CX-K003
2003 Forensic Applications of Y-Chromosome STR's and SNP's Arizona Board of Regents, University of Arizona $430,140 2000-IJ-CX-K006
2000Forensic Applications of Y-Chromosome STR's and SNP'sArizona Board of Regents, University of Arizona$551,4182000-IJ-CX-K006
1997Development of the Human Y Chromosome as a Forensic ToolUniversity of Arizona$147,5291997-LB-VX-0010

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.

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Title Authors Publication Awardee Award Number
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. 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. Arizona Board of Regents, University of Arizona 2000-IJ-CX-K006
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. Arizona Board of Regents, University of Arizona 2000-IJ-CX-K006
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. University of Central Florida 1998-IJ-CX-K003
Comprehensive annotated STR physical map of the human Y chromosome: Forensic implications Hanson EK, Ballantyne J Legal Medicine. 2006 Mar; 8(2):110-20 University of Central Florida 1998-IJ-CX-K003
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. University of Central Florida 1998-IJ-CX-K003
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. University of Central Florida 1998-IJ-CX-K003
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 University of Central Florida 1998-IJ-CX-K003
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. 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 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. 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. National Institute of Standards and Technology 1999-IJ-R-A094
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 National Institute of Standards and Technology 1999-IJ-R-A094
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. 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 National Institute of Standards and Technology 1999-IJ-R-A094
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. 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 National Institute of Standards and Technology 2003-IJ-R-029
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 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. National Institute of Standards and Technology 2003-IJ-R-029
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. National Institute of Standards and Technology 1999-IJ-R-A094
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. National Institute of Standards and Technology 2003-IJ-R-029
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. University of Central Florida 1998-IJ-CX-K003
Forensic Applications of Y Chromosome STRs and SNPs (pdf, 51 pages) Michael Hammer and Alan J. Redd Final Grant Report Arizona Board of Regents, University of Arizona 2000-IJ-CX-K006