Comprehensive mutation analysis of 17 Y-chromosomal short tandem repeat polymorphisms included in the AmpFSTR® Yfiler® PCR amplification kit

International Journal of Legal Medicine

Volumn 123, Issue 6, 2009, Pages 471-482

  Goedbloed, Miriam ^a   Vermeulen, Mark ^a   Fang, Rixun N ^b   Lembring, Maria ^a,c,k   Wollstein, Andreas ^a,d   Ballantyne, Kaye ^a   Lao, Oscar ^a   Brauer, Silke ^a,e   Krüger, Carmen ^f   Roewer, Lutz ^f   Lessig, Rüdiger ^g   Ploski, Rafal ^h   Dobosz, Tadeusz ^h   Henke, Lotte ⁱ   Henke, Jürgen ^j   Furtado, Manohar R ^b   Kayser, Manfred ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b APPLIED BIOSYSTEMS   (United States)

^c UPPSALA UNIVERSITY   (Sweden)

^d UNIVERSITY OF COLOGNE   (Germany)

^e NETHERLANDS FORENSIC INSTITUTE   (Netherlands)

^f CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^g UNIVERSITY OF LEIPZIG   (Germany)

^h MEDICAL UNIVERSITY OF WARSAW   (Poland)

ⁱ WROCLAW MEDICAL UNIVERSITY   (Poland)

^j LGC GmbH   (Germany)

^k UPPSALA UNIVERSITY   (Sweden)

more..

Author keywords

AmpFlSTR YFiler kit; Microsatellites; Mutation; Y chromosome; Y STR

Indexed keywords

ADULT; AGE; ARTICLE; BAYES THEOREM; FATHER; GENETIC POLYMORPHISM; HUMAN; MALE; MEIOSIS; MUTATION; NUCLEAR FAMILY; NUCLEOTIDE SEQUENCE; PATERNITY; POLYMERASE CHAIN REACTION; TANDEM REPEAT; Y CHROMOSOME;

ADULT; AGE FACTORS; BAYES THEOREM; CHROMOSOMES, HUMAN, Y; DNA MUTATIONAL ANALYSIS; FATHERS; HUMANS; MALE; MEIOSIS; MUTATION; NUCLEAR FAMILY; PATERNITY; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; TANDEM REPEAT SEQUENCES;

EID: 74049117635     PISSN: 09379827     EISSN: 14371596     Source Type: Journal    
DOI: 10.1007/s00414-009-0342-y     Document Type: Article

References (40)

1. Kayser M, Krueger C, Nagy M, Geserick G, de Knijff P, Roewer L (1998) Y-chromosomal DNA-analysis in paternity testing: experiences and recommendations. In: Olaisen B, Brinkmann B, Lincoln PJ (eds) Progress in forensic genetics. Elsevier Science, Amsterdam, pp 494-496
2. Kayser M, Brauer S, Weiss G et al (2000) Melanesian origin of Polynesian Y chromosomes. Curr Biol 10:1237-1246
3. Kayser M, Vermeulen M, Knoblauch H, Schuster H, Krawczak M, Roewer L (2007) Relating two deep-rooted pedigrees from Central Germany by high-resolution Y-STR haplotyping. Forensic Sci Int Genet 1:125-128
4. Kayser M, Roewer L, Hedman M et al (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
5. Heyer E, Puymirat J, Dieltjes P, Bakker E, de Knijff P (1997) Estimating Y chromosome specific microsatellite mutation frequencies using deep rooting pedigrees. Hum Mol Genet 6:799-803
6. Holtkemper U, Rolf B, Hohoff C, Forster P, Brinkmann B (2001) Mutation rates at two human Y-chromosomal microsatellite loci using small pool PCR techniques. Hum Mol Genet 10:629-633
7. Zhivotovsky LA, Underhill PA, Cinnioglu C et al (2004) The effective mutation rate at Y chromosome short tandem repeats, with application to human population-divergence time. Am J Hum Genet 74:50-61
8. Tsai LC, Yuen TY, Hsieh HM et al (2002) Haplotype frequencies of nine Y-chromosome STR loci in the Taiwanese Han population. Int J Legal Med 116:179-183
9. Bianchi NO, Catanesi CI, Bailliet G et al (1998) Characterization of ancestral and derived Y-chromosome haplotypes of New World native populations. Am J Hum Genet 63:1862-1871
10. 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
11. Gusmao L, Butler JM, Carracedo A et al (2006) DNA Commission of the International Society of Forensic Genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis. Forensic Sci Int 157:187-197 (Pubitemid 43243178)
12. Kurihara R, Yamamoto T, Uchihi R et al (2004) Mutations in 14 Y-STR loci among Japanese father-son haplotypes. Int J Legal Med 118:125-131
13. de Souza Goes AC, de Carvalho EF, Gomes I et al (2005) Population and mutation analysis of 17 Y-STR loci from Rio de Janeiro (Brazil). Int J Legal Med 119:70-76
14. Ballard DJ, Phillips C, Wright G et al (2005) A study of mutation rates and the characterisation of intermediate, null and duplicated alleles for 13 Y chromosome STRs. Forensic Sci Int 155:65-70
15. Budowle B, Adamowicz M, Aranda XG et al (2005) Twelve short tandem repeat loci Y chromosome haplotypes: genetic analysis on populations residing in North America. Forensic Sci Int 150:1-15
16. Berger B, Lindinger A, Niederstatter H, Grubwieser P, Parson W (2005) Y-STR typing of an Austrian population sample using a 17-loci multiplex PCR assay. Int J Legal Med 119:241-246
17. Hohoff C, Dewa K, Sibbing U, Hoppe K, Forster P, Brinkmann B (2007) Y-chromosomal microsatellite mutation rates in a population sample from northwestern Germany. Int J Legal Med 121:359-363
18. Turrina S, Atzei R, De Leo D (2006) Y-chromosomal STR haplotypes in a Northeast Italian population sample using 17plex loci PCR assay. Int J Legal Med 120:56-59
19. Lee HY, Park MJ, Chung U et al (2007) Haplotypes and mutation analysis of 22 Y-chromosomal STRs in Korean father-son pairs. Int J Legal Med 121:128-135
20. Domingues PM, Gusmao L, da Silva DA, Amorim A, Pereira RW, de Carvalho EF (2007) Sub-Saharan Africa descendents in Rio de Janeiro (Brazil): population and mutational data for 12 Y-STR loci. Int J Legal Med 121:238-241
21. Decker AE, Kline MC, Redman JW, Reid TM, Butler JM (2007) Analysis of mutations in father-son pairs with 17 Y-STR loci. Forensic Sci Int Genet 2:e31-e35
22. Pontes ML, Caine L, Abrantes D, Lima G, Pinheiro MF (2007) Allele frequencies and population data for 17 Y-STR loci (AmpFlSTR Y-filer) in a Northern Portuguese population sample. Forensic Sci Int 170:62-67
23. Sanchez-Diz P, Alves C, Carvalho E et al (2008) Population and segregation data on 17 Y-STRs: results of a GEP-ISFG collaborative study. Int J Legal Med 122:529-533. doi:10.1007/s00414-00008-00258-y
24. Kittler R, Erler A, Brauer S, Stoneking M, Kayser M (2003) Apparent intrachromosomal exchange on the human Y chromosome explained by population history. Eur J Hum Genet 11:304-314
25. Gelman A, Carlin JB, Stern HS, Rubin DB (2003) Bayesian data analysis, 2nd edn. Chapman & Hall
26. Boca Raton, FL Lunn DJ, Thomas A, Best N, Spiegelhalter D (2000) WinBUGS-a Bayesian modelling framework: concepts, structure, and extensibility. Stat Comput 10:325-337
27. Parkin EJ, Kraayenbrink T, Opgenort JR et al (2007) Diversity of 26-locus Y-STR haplotypes in a Nepalese population sample: isolation and drift in the Himalayas. Forensic Sci Int 166:176-181
28. Roewer L, Kruger C, Willuweit S et al (2007) Y-chromosomal STR haplotypes in Kalmyk population samples. Forensic Sci Int 173:204-209
29. Sanchez C, Barrot C, Xifro A et al (2007) Haplotype frequencies of 16 Y-chromosome STR loci in the Barcelona metropolitan area population using Y-Filer kit. Forensic Sci Int 172:211-217
30. Balaresque P, Parkin EJ, Roewer L et al (2009) Genomic complexity of the Y-STR DYS19: inversions, deletions and founder lineages carrying duplications. Int J Legal Med 123:15-23. doi:10.1007/s00414-00008-00253-00413
31. Chang YM, Perumal R, Keat PY, Kuehn DL (2007) Haplotype diversity of 16 Y-chromosomal STRs in three main ethnic populations (Malays, Chinese and Indians) in Malaysia. Forensic Sci Int 167:70-76
32. Mizuno N, Nakahara H, Sekiguchi K, Yoshida K, Nakano M, Kasai K (2008) 16 Y chromosomal STR haplotypes in Japanese. Forensic Sci Int 174:71-76
33. Budowle B, Aranda XG, Lagace RE et al (2008) Null allele sequence structure at the DYS448 locus and implications for profile interpretation. Int J Legal Med 122:421-427. doi:10.1007/ s00414-00008-00258-y
34. Gusmao L, Sanchez-Diz P, Calafell F et al (2005) Mutation rates at Y chromosome specific microsatellites. Hum Mutat 26:520-528
35. Gjertson DW, Brenner CH, Baur MP et al (2007) ISFG: Recommendations on biostatistics in paternity testing. Forensic Sci Int Genet 1:223-231
36. Amorim A (2008) A cautionary note on the evaluation of genetic evidence from uniparentally transmitted markers. Forensic Sci Int Genet 2:376-378
37. Rolf B, Keil W, Brinkmann B, Roewer L, Fimmers R (2001) Paternity testing using Y-STR haplotypes: assigning a probability for paternity in cases of mutations. Int J Legal Med 115:12-15
38. Kayser M, Sajantila A (2001) Mutations at Y-STR loci: implications for paternity testing and forensic analysis. Forensic Sci Int 118:116-121
39. Jacewicz R, Berent J, Prosniak A, Dobosz T, Kowalczyk E, Szram S (2004) Non-exclusion paternity case with a triple genetic incompatibility. Int Cong Ser 1261:511-513
40. Vermeulen M, Wollstein A, van der Gaag K, et al. (2009) Improving global and regional resolution of male lineage differentiation by simple single-copy Y-chromosomal short tandem repeat polymorphisms. Forensic Sci Int Genet. doi:10.1016/j. fsigen.2009.01.009