Abstract
To estimate Y-chromosomal short tandem repeat (Y-STR) mutation rates, 15 loci (i.e., DYS19, DYS389 I/II, DYS390, and DYS393; DYS437, DYS438, DYS439, and DYS385; DYS391, DYS392, YCA II, and DXYS156) were analyzed in a sample of 1,029 father/son pairs from Westphalia, northwestern Germany. Among 15,435 meiotic allele transfers, 32 mutations were observed; thus, the mutation rate across all 15 Y-STR loci was 2.1 × 10−3 per locus (95% C.I.: 1.5–3.0 × 10−3). With the exception of a three-repeat mutation at DYS385, all remaining mutations were single repeat mutations. Repeat losses were more frequent than gains (20:12), and the mutation rate appeared to increase with age. The Y haplogroups that were detected in the individuals showing a mutation reflect the haplogroup distribution in the Westphalian population. Additionally, the correlation of surnames and haplotypes was tested: Only 49 surnames occurred more than once, and only two men with the same rare surname shared the same haplotype. All other men with identical surnames carried different haplotypes.
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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
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
Dupuy BM, Stenersen M, Egeland T, Olaisen B (2004) Y-chromosomal microsatellite mutation rates: differences in mutation rate between and within loci. Human Mutat 23:117–124
Kurihara R, Yamamoto T, Uchihi R et al (2004) Mutations in 14 Y-STR loci among Japanese father–son haplotypes. Int J Leg Med 118:125–131
Gusmao L, Sanchez-Diz P, Calafell F et al (2005) Mutation rates at Y chromosome specific microsatellites. Human Mutat 26:520–528
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 Leg Med 119:70–76
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. Int J Leg Med 120:191–200
Schmidt U, Meier N, Lutz S (2003) Y-chromosomal STR haplotypes in a population sample from southwest Germany (Freiburg area). Int J Leg Med 117:211–217
Cali F, Forster P, Kersting C et al (2002) DXYS156: a multi-purpose short tandem repeat locus for determination of sex, paternal and maternal geographic origins and DNA fingerprinting. Int J Leg Med 116:133–138
Brinkmann B, Pfeiffer H, Schürenkamp M, Hohoff C (2001) The evidential value of STRs. An analysis of exclusion cases. Int J Leg Med 114:173–177
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 Leg Med 115:12–15
Dewa K, Tuyen NQ, Rand S, Hohoff C, Brinkmann B (2003) 13 Y-chromosomal STRs in a Vietnamese population. Prog Forensic Genet 9:315–318
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
Niederstätter H, Berger B, Oberacher H, Brandstätter A, Huber CG, Parson W (2005) Separate analysis of DYS385a and b versus conventional DYS385 typing: is there forensic relevance? Int J Leg Med 119:1–9
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
Brinkmann B, Klintschar M, Neuhuber F, Hühne 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
Brion M, Sanchez JJ, Balogh K et al (2005) Introduction of an single nucleodite polymorphism-based “Major Y-chromosome haplogroup typing kit” suitable for predicting the geographical origin of male lineages. Electrophoresis 26:4411–4420
Kayser M, Lao O, Anslinger K et al (2005) Significant genetic differentiation between Poland and Germany follows present-day political borders, as revealed by Y-chromosome analysis. Hum Genet 117:428–443
Nei M (1987) Molecular evolutionary genetics. Columbia University Press, New York, p 178
King TE, Ballereau SJ, Schürer KE, Jobling MA (2006) Genetic signatures of coancestry within surnames. Curr Biol 16:384–388
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
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
Ballard DJ, Phillips C, Wright G, Thacker CR, Robson C, Revoir AP, Syndercombe-Court D (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
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The authors thank M. Heinrich (present address: Institute of Legal Medicine, Freiburg, Germany) for Y-SNP typing.
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Hohoff, C., Dewa, K., Sibbing, U. et al. Y-chromosomal microsatellite mutation rates in a population sample from northwestern Germany. Int J Legal Med 121, 359–363 (2007). https://doi.org/10.1007/s00414-006-0123-9
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DOI: https://doi.org/10.1007/s00414-006-0123-9