Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.
ADVANCED SEARCH
Log in
Top
International Journal of Legal Medicine
Published in: International Journal of Legal Medicine 4/2006

01-07-2006 | Review Article

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

Authors: 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. Schneider

Published in: International Journal of Legal Medicine | Issue 4/2006

Login to get access

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.
Literature
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 114:21–30CrossRefPubMed
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 124:5–10CrossRefPubMed
3.
White PS, Tatum OL, Deaven LL, Longmire JL (1999) New, male-specific microsatellite markers from the human Y chromosome. Genomics 57:433–437CrossRefPubMed
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):e8CrossRefPubMed
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 122:19–26CrossRefPubMed
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 118:153–159CrossRefPubMed
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 126:129–136CrossRefPubMed
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 87:185–192CrossRefPubMed
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 74:61–63CrossRefPubMed
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 423:825–837CrossRefPubMed
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 141–149CrossRefPubMed
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 97:61–70CrossRefPubMed
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 11:304–314CrossRefPubMed
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 66:1580–1588CrossRefPubMed
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 12:341–347CrossRefPubMed
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):223–225CrossRefPubMed
17.
18.
19.
Butler JM (2003) Recent developments in Y-short tandem repeat and Y-single nucleotide polymorphism analysis. Forensic Sci Rev 15:91–111
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 97:7360–7365CrossRefPubMed
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 23:117–124CrossRefPubMed
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 57:21–29CrossRefPubMed
23.
Erler A, Stoneking M, Kayser M (2004) Development of Y-chromosomal microsatellite markers for nonhuman primates. Mol Ecol 13:2921–2930CrossRefPubMed
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 74:1183–1197CrossRefPubMed
25.
26.
27.
Füredi S, Woller J, Padar Z, Angyal M (1999) Y-STR haplotyping in two Hungarian populations. Int J Legal Med 113:38–42CrossRefPubMed
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 129:10–24CrossRefPubMed
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 139:107–121CrossRefPubMed
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 110:79–85CrossRefPubMed
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 116:322–326PubMed
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 89:389–394CrossRefPubMed
33.
Mathias N, Bayes M, Tyler-Smith C (1994) Highly informative compound haplotypes for the human Y chromosome. Hum Mol Genet 3:115–123PubMedCrossRef
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 4:208–211CrossRefPubMed
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 5:1767–1775CrossRefPubMed
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 115:54–56CrossRefPubMed
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 116:191–194CrossRefPubMed
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 130:97–111CrossRefPubMed
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 125:42–51CrossRefPubMed
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 1670:81–83PubMed
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 117:27–33PubMed
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 62:1408–1415CrossRefPubMed
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 114:31–43CrossRefPubMed
44.
Krawczak M (2001) Forensic evaluation of Y-STR haplotype matches: a comment. Forensic Sci Int 118:114–115CrossRefPubMed
45.
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 47:513–519PubMed
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 13:624–634CrossRefPubMed
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 118:106–113CrossRefPubMed
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 110:592–600CrossRefPubMed
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 116:279–291CrossRefPubMed
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 110:134–149CrossRefPubMed
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 145:47–55PubMed
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 117:211–217CrossRefPubMed
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)
Metadata
Title
DNA Commission of the International Society of Forensic Genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis
Authors
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. Schneider
Publication date
01-07-2006
Publisher
Springer-Verlag
Published in
International Journal of Legal Medicine / Issue 4/2006
Print ISSN: 0937-9827
Electronic ISSN: 1437-1596
DOI
https://doi.org/10.1007/s00414-005-0026-1

Other articles of this Issue 4/2006

International Journal of Legal Medicine 4/2006 Go to the issue

Review Article

The human brain and its neural stem cells postmortem: from dead brains to live therapy

Original Article

Postmortem imaging of blood and its characteristics using MSCT and MRI

Original Article

Finite element modelling of human head injuries caused by a fall

Original Article

Value of morphological parameters for grading of brain swelling

Case Report

Investigation of an alleged mechanism of finger injury in an automobile crash

Case Report

A case of drug-facilitated sexual assault leading to death by chloroform poisoning