Abstract
The DNA Commission of the International Society of Forensic Genetics (ISFG) regularly publishes guidelines and recommendations concerning the application of DNA polymorphisms to the problems of human identification. A previous recommendation published in 2001 has already addressed Y-chromosome polymorphisms, with particular emphasis on short tandem repeats (STRs). Since then, the use of Y-STRs has become very popular, and numerous new loci have been introduced. The current recommendations address important aspects to clarify problems regarding the nomenclature, the definition of loci and alleles, population genetics and reporting methods.
Similar content being viewed by others
References
Gomez J, Carracedo A (2000) The 1998–1999 collaborative exercises and proficiency testing program on DNA typing of the Spanish and Portuguese Working Group of the International Society for Forensic Genetics (GEP-ISFG). Forensic Sci Int 114:21–30
Gill P, Brenner C, Brinkmann B, Budowle B, Carracedo A, Jobling MA, De Knijff P, Kayser M, Krawczak M, Mayr WR, Morling N, Olaisen B, Pascali V, Prinz M, Roewer L, Schneider PM, Sajantila A, Tyler-Smith C (2001) DNA Commission of the International Society of Forensic Genetics: recommendations on forensic analysis using Y-chromosome STRs. Forensic Sci Int 124:5–10
White PS, Tatum OL, Deaven LL, Longmire JL (1999) New, male-specific microsatellite markers from the human Y chromosome. Genomics 57:433–437
Ayub Q, Mohyuddin A, Qamar R, Mazhar K, Zerjal T, Tyler-Smith C (2000) Identification and characterisation of novel human Y-chromosomal microsatellites from sequence database information. Nucleic Acids Res 28(2):e8
González-Neira A, Elmoznino M, Lareu MV, Sánchez-Diz P, Gusmão L, Prinz M, Carracedo A (2001) Sequence structure of 12 novel Y chromosome microsatellites and PCR amplification strategies. Forensic Sci Int 122:19–26
Hou YP, Zhang J, Li YB, Wu J, Zhang SZ, Prinz M (2001) Allele sequences of six new Y-STR loci and haplotypes in the Chinese Han population. Forensic Sci Int 118:153–159
Gusmão L, Gonzalez-Neira A, Alves C, Lareu M, Costa S, Amorim A, Carracedo A (2002) Chimpanzee homologous of human Y specific STRs. A comparative study and a proposal for nomenclature. Forensic Sci Int 126:129–136
Gill P, Brinkmann B, d'Aloja E, Andersen J, Bar W, Carracedo A, Dupuy B, Eriksen B, Jangblad M, Johnsson V, Kloosterman AD, Lincoln P, Morling N, Rand S, Sabatier M, Scheithauer R, Schneider PM, Vide MC (1997) Considerations from the European DNA profiling group (EDNAP) concerning STR nomenclature. Forensic Sci Int 87:185–192
Olaisen B, Bar W, Brinkmann B, Budowle B, Carracedo A, Gill P, Lincoln P, Mayr WR, Rand S (1998) DNA recommendations 1997 of the International Society for Forensic Genetics. Vox Sang 74:61–63
Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, Brown LG, Repping S, Pyntikova T, Ali J, Bieri T, Chinwalla A, Delehaunty A, Delehaunty K, Du H, Fewell G, Fulton L, Fulton R, Graves T, Hou SF, Latrielle P, Leonard S, Mardis E, Maupin R, McPherson J, Miner T, Nash W, Nguyen C, Ozersky P, Pepin K, Rock S, Rohlfing T, Scott K, Schultz B, Strong C, Tin-Wollam A, Yang SP, Waterston RH, Wilson RK, Rozen S, Page DC (2003) The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 423:825–837
Kayser M, Caglia A, Corach D, Fretwell N, Gehrig C, Graziosi G, Heidorn F, Herrmann S, Herzog B, Hidding M, Honda K, Jobling M, Krawczak M, Leim K, Meuser S, Meyer E, Oesterreich W, Pandya A, Parson W, Penacino G, Perez-Lezaun A, Piccinini A, Prinz M, Schmitt C, Schneider PM, Szibor R, Teifel-Greding J, Weichhold G, Roewer L (1997) Evaluation of Y-chromosomal STRs: a multicenter study. Int J Legal Med 110:125–133, appendix 141–149
Schneider PM, Meuser S, Waiyawuth W, Seo Y, Rittner C (1998) Tandem repeat structure of the duplicated Y-chromosomal STR locus DYS385 and frequency studies in the German and three Asian populations. Forensic Sci Int 97:61–70
Kittler R, Erler A, Brauer S, Stoneking M, Kayser M (2003) Apparent intra-chromosomal exchange on the human Y chromosome explained by population history. Eur J Hum Genet 11:304–314
Kayser M, Roewer L, Hedman M, Henke L, Henke J, Brauer S, Krüger C, Krawczak M, Nagy M, Dobosz T, Szibor R, De Knijff P, Stoneking M, Sajantila A (2000) Characteristics and frequency of germline mutations at microsatellite loci from the human Y chromosome, as revealed by direct observation in father/son pairs. Am J Hum Genet 66:1580–1588
Bosch E, Jobling MA (2003) Duplications of the AZFa region of the human Y chromosome are mediated by homologous recombination between HERVs and are compatible with male fertility. Hum Mol Genet 12:341–347
Diederiche M, Martín P, Amorim A, Corte-Real F, Gusmão L (2005) A case of double alleles at three Y-STR loci: forensic implications. Int J Legal Med 119(4):223–225
YHRD. Y-Chromosome Haplotype Reference Database. http://www.yhrd.org, publication date: July 15, 2005; access date: August 1, 2005
NIST. National Institute of Standards and Technology, STRBase website. http://www.cstl.nist.gov/div831/strbase/y_strs.htm, publication date: July 21, 2005; access date: August 1, 2005
Butler JM (2003) Recent developments in Y-short tandem repeat and Y-single nucleotide polymorphism analysis. Forensic Sci Rev 15:91–111
Thomson R, Pritchard JK, Shen P, Oefner PJ, Feldman MW (2000) Recent common ancestry of human Y chromosomes: evidence from DNA sequence data. Proc Natl Acad Sci U S A 97:7360–7365
Dupuy BM, Stenersen M, Egeland T, Olaisen B (2004) Y-chromosomal microsatellite mutation rates: differences in mutation rate between and within loci. Hum Mutat 23:117–124
Gusmão L, Gonzalez-Neira A, Alves C, Sanchez-Diz P, Dauber EM, Amorim A, Carracedo A (2002) Genetic diversity of Y-specific STRs in chimpanzees (Pantroglodytes). Am J Primatol 57:21–29
Erler A, Stoneking M, Kayser M (2004) Development of Y-chromosomal microsatellite markers for nonhuman primates. Mol Ecol 13:2921–2930
Kayser M, Kittler R, Erler A, Hedman M, Lee AC, Mohyuddin A, Mehdi SQ, Rosser Z, Stoneking M, Jobling MA, Sajantila A, Tyler-Smith C (2004) A comprehensive survey of human Y-chromosomal microsatellites. Am J Hum Genet 74:1183–1197
Reliagene. Y-STR Haplotype Reference Database for U.S. Populations. http://www.reliagene.com, publication date: not available; access date: August 1, 2005
Promega Corporation. PowerPlex Y Haplotype Database. http://www.promega.com/techserv/tools/pplexy/, publication date: February 2005; access date: August 1, 2005
Füredi S, Woller J, Padar Z, Angyal M (1999) Y-STR haplotyping in two Hungarian populations. Int J Legal Med 113:38–42
Butler JM, Schoske R, Vallone PM, Kline MC, Redd AJ, Hammer MF (2002) A novel multiplex for simultaneous amplification of 20 Y chromosome STR markers. Forensic Sci Int 129:10–24
Schoske R, Vallone PM, Kline MC, Redman JW, Butler JM (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
Carracedo A, Bär W, Lincoln P, Mayr W, Morling N, Olaisen B, Schneider P, Budowle B, Brinkmann B, Gill P, Holland M, Tully G, Wilson M (2000) DNA Commission of the International Society for Forensic Genetics: guidelines for mitochondrial DNA typing. Forensic Sci Int 110:79–85
Gusmão L, Alves C, Costa S, Amorim A, Brion M, González-Neira A, Carracedo A (2002) Point mutations in the flanking regions of the Y-chromosome specific STRs DYS391, DYS437 and DYS438. Int J Legal Med 116:322–326
Roewer L, Arnemann J, Spurr NK, Grzeschik KH, Epplen JT (1992) Simple repeat sequences on the human Y chromosome are equally polymorphic as their autosomal counterparts. Hum Genet 89:389–394
Mathias N, Bayes M, Tyler-Smith C (1994) Highly informative compound haplotypes for the human Y chromosome. Hum Mol Genet 3:115–123
Chen H, Lowther W, Avramopoulos D, Antonarakis SE (1994) Homologous loci DXYS156X and DXYS156Y contain a polymorphic pentanucleotide repeat (TAAAA)n and map to human X and Y chromosomes. Hum Mutat 4:208–211
Jobling MA, Samara V, Pandya A, Fretwell N, Bernasconi B, Mitchell RJ, Gerelsaikhan T, Dashnyam B, Sajantila A, Salo PJ, Nakahori Y, Disteche CM, Thangaraj K, Singh L, Crawford MH, Tyler-Smith C (1996) Recurrent duplication and deletion polymorphisms on the long arm of the Y chromosome in normal males. Hum Mol Genet 5:1767–1775
Iida R, Tsubota E, Matsuki T (2001) Identification and characterization of two novel human polymorphic STRs on the Y chromosome. Int J Legal Med 115:54–56
Iida R, Tsubota E, Sawazaki K, Masuyama M, Matsuki T, Yasuda T, Kishi K (2002) Characterization and haplotype analysis of the polymorphic Y-STRs DYS443, DYS444 and DYS445 in a Japanese population. Int J Legal Med 116:191–194
Redd AJ, Agellon AB, Kearney VA, Contreras VA, Karafet T, Park H, de Knijff P, Butler JM, Hammer MF (2002) Forensic value of 14 novel STRs on the human Y chromosome. Forensic Sci Int 130:97–111
Bosch E, Lee AC, Calafell F, Arroyo E, Henneman P, De Knijff P, Jobling MA (2002) High resolution Y chromosome typing: 19 STRs amplified in three multiplex reactions. Forensic Sci Int 125:42–51
Mohyuddin A, Ayub Q, Siddiqi S, Carvalho-Silva DR, Mazhar K, Rehman S, Firasat S, Dar A, Tyler-Smith C, Mehdi SQ (2004) Genetic instability in EBV-transformed lymphoblastoid cell lines. Biochim Biophys Acta 1670:81–83
Beleza S, Alves C, González-Neira A, Lareu M, Amorim A, Carracedo A, Gusmão L (2003) Extending STR markers in Y chromosome haplotypes. Int J Legal Med 117:27–33
Brinkmann B, Klintschar M, Neuhuber F, Huhne J, Rolf B (1998) Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat. Am J Hum Genet 62:1408–1415
Roewer L, Kayser M, de Knijff P, Anslinger K, Betz A, Caglia A, Corach D, Füredi S, Henke L, Hidding M, Kargel HJ, Lessig R, Nagy M, Pascali VL, Parson W, Rolf B, Schmitt C, Szibor R, Teifel-Greding J, Krawczak M (2000) A new method for the evaluation of matches in non-recombining genomes: application to Y-chromosomal short tandem repeat (STR) haplotypes in European males. Forensic Sci Int 114:31–43
Krawczak M (2001) Forensic evaluation of Y-STR haplotype matches: a comment. Forensic Sci Int 118:114–115
Applied Biosystems. Y-Filer Haplotype Database. http://www.appliedbiosystems.com/yfilerdatabase, publication date: not available; access date: August 1, 2005
Kayser M, Brauer S, Willuweit S, Schadlich H, Batzer MA, Zawacki J, Prinz M, Roewer L, Stoneking M (2002) Online Y-chromosomal short tandem repeat haplotype reference database (YHRD) for U.S. populations. J Forensic Sci 47:513–519
Kayser M, Brauer S, Schädlich H, Prinz M, Batzer MA, Zimmerman PA, Boatin BA, Stoneking M (2003) Y chromosome STR haplotypes and the genetic structure of U.S. populations of African, European, and Hispanic ancestry. Genome Res 13:624–634
Roewer L, Krawczak M, Willuweit S, Nagy M, Alves C, Amorim A, Anslinger K, Augustin C, Betz A, Bosch E, Cagliá A, Carracedo A, Corach D, Dobosz T, Dupuy BM, Füredi S, Gehrig C, Gusmão L, Henke J, Henke L, Hidding M, Hohoff C, Hoste B, Jobling M, Kärgel HJ, De Knijff P, Lessig R, Liebeherr E, Lorente M, Martínez-Jarreta B, Nievas P, Nowak M, Parson W, Pascali VL, Penacino G, Ploski R, Rolf B, Sala A, Schmidt U, Schmitt C, Schneider PM, Szibor R, Teifel-Greding J, Kayser M (2001) Online reference database of Y-chromosomal short tandem repeat (STR) haplotypes. Forensic Sci Int 118:106–113
Ploski R, Wozniak M, Pawlowski R, Monies DM, Branicki W, Kupiec T, Kloosterman A, Dobosz T, Bosch E, Nowak M, Lessig R, Jobling MA, Roewer L, Kayser M (2002) Homogeneity and distinctiveness of Polish paternal lineages revealed by Y chromosome microsatellite haplotype analysis. Hum Genet 110:592–600
Roewer L, Croucher PJ, Willuweit S, Lu TT, Kayser M, Lessig R, de Knijff P, Jobling MA, Tyler-Smith C, Krawczak M (2005) Signature of recent historical events in the European Y-chromosomal STR haplotype distribution. Hum Genet 116:279–291
De Knijff P, Kayser M, Caglia A, Corach D, Fretwell N, Gehrig C, Graziosi G, Heidorn F, Herrmann S, Herzog B, Hidding M, Honda K, Jobling M, Krawczak M, Leim K, Meuser S, Meyer E, Oesterreich W, Pandya A, Parson W, Penacino G, Perez-Lezaun A, Piccinini A, Prinz M, Schmitt C, Schneider PM, Szibor R, Teifel-Greding J, Weichhold G, Roewer L (1997) Chromosome Y microsatellites: population genetic and evolutionary aspects. Int J Legal Med 110:134–149
Dai HL, Wang XD, Li YB, Wu J, Zhang J, Zhang HJ, Dong JG, Hou YP (2004) Characterization and haplotype analysis of 10 novel Y-STR loci in Chinese Han population. Forensic Sci Int 145:47–55
Schmidt U, Meier N, Lutz S (2003) Y-chromosomal STR haplotypes in a population sample from southwest Germany (Freiburg area). Int J Legal Med 117:211–217
Butler JM, Decker AE, Vallone PM, Kline MC (2005) Allele frequencies for 27 Y-STR loci with U.S. Caucasian, African-American and Hispanic samples. Forensic Sci Int (in press)
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Gusmão, L., Butler, J.M., Carracedo, A. et al. DNA Commission of the International Society of Forensic Genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis. Int J Legal Med 120, 191–200 (2006). https://doi.org/10.1007/s00414-005-0026-1
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00414-005-0026-1