International Journal of Legal Medicine

, Volume 120, Issue 4, pp 191–200 | Cite as

DNA Commission of the International Society of Forensic Genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis

  • L. Gusmão
  • J. M. Butler
  • A. Carracedo
  • P. Gill
  • M. Kayser
  • W. R. Mayr
  • N. Morling
  • M. Prinz
  • L. Roewer
  • C. Tyler-Smith
  • P. M. SchneiderEmail author
Review Article


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.


Y chromosome Short tandem repeat DNA commission ISFG Mutation 


  1. 1.
    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 114:21–30CrossRefPubMedGoogle Scholar
  2. 2.
    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 124:5–10CrossRefPubMedGoogle Scholar
  3. 3.
    White PS, Tatum OL, Deaven LL, Longmire JL (1999) New, male-specific microsatellite markers from the human Y chromosome. Genomics 57:433–437CrossRefPubMedGoogle Scholar
  4. 4.
    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):e8CrossRefPubMedGoogle Scholar
  5. 5.
    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 122:19–26CrossRefPubMedGoogle Scholar
  6. 6.
    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 118:153–159CrossRefPubMedGoogle Scholar
  7. 7.
    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 126:129–136CrossRefPubMedGoogle Scholar
  8. 8.
    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 87:185–192CrossRefPubMedGoogle Scholar
  9. 9.
    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 74:61–63CrossRefPubMedGoogle Scholar
  10. 10.
    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 423:825–837CrossRefPubMedGoogle Scholar
  11. 11.
    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 141–149CrossRefPubMedGoogle Scholar
  12. 12.
    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 97:61–70CrossRefPubMedGoogle Scholar
  13. 13.
    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 11:304–314CrossRefPubMedGoogle Scholar
  14. 14.
    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 66:1580–1588CrossRefPubMedGoogle Scholar
  15. 15.
    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 12:341–347CrossRefPubMedGoogle Scholar
  16. 16.
    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):223–225CrossRefPubMedGoogle Scholar
  17. 17.
    YHRD. Y-Chromosome Haplotype Reference Database., publication date: July 15, 2005; access date: August 1, 2005
  18. 18.
    NIST. National Institute of Standards and Technology, STRBase website., publication date: July 21, 2005; access date: August 1, 2005
  19. 19.
    Butler JM (2003) Recent developments in Y-short tandem repeat and Y-single nucleotide polymorphism analysis. Forensic Sci Rev 15:91–111Google Scholar
  20. 20.
    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 97:7360–7365CrossRefPubMedGoogle Scholar
  21. 21.
    Dupuy BM, Stenersen M, Egeland T, Olaisen B (2004) Y-chromosomal microsatellite mutation rates: differences in mutation rate between and within loci. Hum Mutat 23:117–124CrossRefPubMedGoogle Scholar
  22. 22.
    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 57:21–29CrossRefPubMedGoogle Scholar
  23. 23.
    Erler A, Stoneking M, Kayser M (2004) Development of Y-chromosomal microsatellite markers for nonhuman primates. Mol Ecol 13:2921–2930CrossRefPubMedGoogle Scholar
  24. 24.
    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 74:1183–1197CrossRefPubMedGoogle Scholar
  25. 25.
    Reliagene. Y-STR Haplotype Reference Database for U.S. Populations., publication date: not available; access date: August 1, 2005
  26. 26.
    Promega Corporation. PowerPlex Y Haplotype Database., publication date: February 2005; access date: August 1, 2005
  27. 27.
    Füredi S, Woller J, Padar Z, Angyal M (1999) Y-STR haplotyping in two Hungarian populations. Int J Legal Med 113:38–42CrossRefPubMedGoogle Scholar
  28. 28.
    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 129:10–24CrossRefPubMedGoogle Scholar
  29. 29.
    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 139:107–121CrossRefPubMedGoogle Scholar
  30. 30.
    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 110:79–85CrossRefPubMedGoogle Scholar
  31. 31.
    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 116:322–326PubMedGoogle Scholar
  32. 32.
    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 89:389–394CrossRefPubMedGoogle Scholar
  33. 33.
    Mathias N, Bayes M, Tyler-Smith C (1994) Highly informative compound haplotypes for the human Y chromosome. Hum Mol Genet 3:115–123PubMedCrossRefGoogle Scholar
  34. 34.
    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 4:208–211CrossRefPubMedGoogle Scholar
  35. 35.
    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 5:1767–1775CrossRefPubMedGoogle Scholar
  36. 36.
    Iida R, Tsubota E, Matsuki T (2001) Identification and characterization of two novel human polymorphic STRs on the Y chromosome. Int J Legal Med 115:54–56CrossRefPubMedGoogle Scholar
  37. 37.
    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 116:191–194CrossRefPubMedGoogle Scholar
  38. 38.
    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 130:97–111CrossRefPubMedGoogle Scholar
  39. 39.
    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 125:42–51CrossRefPubMedGoogle Scholar
  40. 40.
    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 1670:81–83PubMedGoogle Scholar
  41. 41.
    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 117:27–33PubMedGoogle Scholar
  42. 42.
    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 62:1408–1415CrossRefPubMedGoogle Scholar
  43. 43.
    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 114:31–43CrossRefPubMedGoogle Scholar
  44. 44.
    Krawczak M (2001) Forensic evaluation of Y-STR haplotype matches: a comment. Forensic Sci Int 118:114–115CrossRefPubMedGoogle Scholar
  45. 45.
    Applied Biosystems. Y-Filer Haplotype Database., publication date: not available; access date: August 1, 2005
  46. 46.
    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 47:513–519PubMedGoogle Scholar
  47. 47.
    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 13:624–634CrossRefPubMedGoogle Scholar
  48. 48.
    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 118:106–113CrossRefPubMedGoogle Scholar
  49. 49.
    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 110:592–600CrossRefPubMedGoogle Scholar
  50. 50.
    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 116:279–291CrossRefPubMedGoogle Scholar
  51. 51.
    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 110:134–149CrossRefPubMedGoogle Scholar
  52. 52.
    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 145:47–55PubMedGoogle Scholar
  53. 53.
    Schmidt U, Meier N, Lutz S (2003) Y-chromosomal STR haplotypes in a population sample from southwest Germany (Freiburg area). Int J Legal Med 117:211–217CrossRefPubMedGoogle Scholar
  54. 54.
    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)Google Scholar

Copyright information

© Springer-Verlag 2005

Authors and Affiliations

  • L. Gusmão
    • 1
  • J. M. Butler
    • 2
  • A. Carracedo
    • 3
  • P. Gill
    • 4
  • M. Kayser
    • 5
  • W. R. Mayr
    • 6
  • N. Morling
    • 7
  • M. Prinz
    • 8
  • L. Roewer
    • 9
  • C. Tyler-Smith
    • 10
  • P. M. Schneider
    • 11
    Email author
  1. 1.IPATIMUPPortoPortugal
  2. 2.National Institute of Standards and TechnologyGaithersburgUSA
  3. 3.Institute of Legal MedicineFaculty of MedicineSantiago de CompostelaSpain
  4. 4.Forensic Science ServiceBirminghamUK
  5. 5.Department of Forensic Molecular BiologyErasmus UniversityRotterdamThe Netherlands
  6. 6.Department of Blood Group Serology and Transfusion MedicineUniversity of ViennaViennaAustria
  7. 7.Department of Forensic Genetics, Institute of Forensic MedicineUniversity of CopenhagenCopenhagenDenmark
  8. 8.Office of Chief Medical Examiner, Department of Forensic BiologyNew YorkUSA
  9. 9.Institute of Legal MedicineHumboldt UniversityBerlinGermany
  10. 10.Department of BiochemistryUniversity of OxfordOxfordUK
  11. 11.Institute of Legal MedicineUniversity of CologneCologneGermany

Personalised recommendations