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01-06-2004 | Original Article

Mutations in 14 Y-STR loci among Japanese father-son haplotypes

Authors: Rina Kurihara, Toshimichi Yamamoto, Rieko Uchihi, Shi-Lin Li, Takashi Yoshimoto, Hiroyuki Ohtaki, Kiyofumi Kamiyama, Yoshinao Katsumata

Published in: International Journal of Legal Medicine | Issue 3/2004

Abstract

In the present study 161 Japanese father/son haplotype transfers in 147 pedigrees were analyzed at 14 Y-STRs with two multiplex PCR-based typing systems. Five isolated single repeat mutations were identified at the DYS389I, DYS439, Y-GATA-H4, DYS389II and DYS391 loci, and a pedigree showing triple alleles at the DYS385 locus (a duplicate locus) without allelic discrepancy between the father and son was also observed. The overall mutation rate estimated across the 14 Y-STRs in the Japanese population was 0.22%/locus/meiosis (95% C.I. 0.09–0.51%). This rate was not significantly different (p>0.05) from those of autosomal STRs and Y-STRs in other populations, including German, Austrian, Polish and Norwegian populations. Furthermore, 138 haplotypes were identified in 147 pedigrees with a haplotype diversity value of 0.9983. Therefore, a combination of the two systems should permit effective analysis with sufficient discriminatory power.

Roewer L, Kayser M, Dieltjes P, Nagy M, Bakker E, Krawczak M, Knijff P de (1996) Analysis of molecular variance (AMOVA) of Y-chromosome-specific microsatellites in two closely related human populations. Hum Mol Genet 5:1029–1033PubMed

Prinz M, Boll K, Baum H, Shaler B (1997) Multiplexing of Y chromosome specific STRs and performance for mixed samples. Forensic Sci Int 85:209–218PubMed

Redd AJ, Clifford SL, Stoneking M (1997) Multiplex DNA typing of short-tandem-repeat loci on the Y chromosome. Biol Chem 378:923–927PubMed

Gusmão L, González-Neira A, Pestoni C, Brión M, Lareu MV, Carracedo A (1999) Robustness of the Y STRs DYS19, DYS389I and II, DYS390 and DYS393: optimization of a PCR pentaplex. Forensic Sci Int 106:163–172PubMed

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

Uchihi R, Yamamoto T, Usuda K et al. (2003) Haplotype analysis with 14 Y-STR loci using 2 multiplex amplification and typing systems in 2 regional populations in Japan. Int J Legal Med 117:34–38PubMed

Gill P, Brenner C, Brinkmann B et al. (2001) DNA Commission of the International Society of Forensic Genetics: recommendations on forensic analysis using Y-chromosome STRs. Int J Legal Med 114:305–309PubMed

Casella G (1987) Refining binomial confidence intervals. Can J Stat 14:113–129

Brinkmann B, Klintschar M, Neuhuber F, Hühne J, Rolf B (1998) Mutation rate in human micro-satellites: influence of the structure and length of the tandem repeat. Am J Hum Genet 62:1408–1415PubMed

10.

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 66:1580–1588PubMed

11.

Dupuy BM, Andreassen R, Flønes AG et al. (2001) Y chromosome variation in a Norwegian population sample. Forensic Sci Int 117:163–173CrossRefPubMed

12.

Valdes AM, Slatkin M, Freimer NB (1993) Allele frequencies at microsatellite loci: the stepwise mutation model revisited. Genetics 133:737–749PubMed

13.

Di Rienzo A, Petersion AC, Garza JC, Valdes AM, Slatkin M, Freimer NB (1994) Mutational processes of simple-sequence repeat loci in human populations. Proc Natl Acad Sci U S A 91:3166–3170PubMed

14.

Chakraborty R, Kimmel M, Stivers DN, Davison LJ, Deka R (1997) Relative mutation rates at di-, tri-, and tetranucleotide microsatellite loci. Proc Natl Acad Sci U S A 94:1041–1046PubMed

15.

Petes TD, Greenwell PW, Dominska M (1997) Stabilization of microsatellite sequences by variant repeats in the yeast Saccharomyces cerevisiae. Genetics 146:491–498PubMed

16.

Wierdl M, Dominska M, Petes TD (1997) Microsatellite instability in yeast: dependence on the length of the microsatellite. Genetics 146:769–779PubMed

17.

Schlötterer C, Ritter R, Harr B, Brem G (1998) High mutation rate of a long microsatellite allele in Drosophila melanogaster provides evidence for allele-specific mutation rates. Mol Biol Evol 15:1269–1274PubMed

18.

Sajantila A, Lukka M, Syvänen AC (1999) Experimentally observed germline mutation at human micro- and minisatellite loci. Eur J Hum Genet 7:263–266PubMed

19.

Weber JL, Wong C (1993) Mutation of human short tandem repeats. Hum Mol Genet 2:1123–1128PubMed

20.

Ohta T, Kimura M (1973) The model of mutation appropriate to estimate the number of electrophoretically detectable alleles in a genetic population. Genet Res 22:201–204PubMed

21.

Levinson G, Gutman GA (1987) Slipped-strand mispairing: a major mechanism for DNA sequence evolution. Mol Biol Evol 4:203–221PubMed

22.

Heyer E, Puymirat J, Dieltjes P, Bakker E, Knijff P de (1997) Estimating Y chromosome specific microsatellite mutation frequencies using deep rooting pedigrees. Hum Mol Genet 6:799–803PubMed

23.

Bianchi NO, Catanesi CI, Bailliet G, Martinez-Margnac VL, Bravi CM, Vidal-Rioja LB, Herrera RJ (1998) Characterisation of ancestral and derived Y-chromosome haplotypes of new world native populations. Am J Hum Genet 63:1862–1871PubMed

24.

Xu X, Peng M, Fang Z, Xu X (2000) The direction of microsatellite mutations is dependent upon allele length. Nat Genet 24:396–399CrossRefPubMed

25.

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 115:12–15PubMed

26.

Forster P, Röhl A, Lünnemann P, Brinkmann C, Zerjal T, Tyler-Smith C, Brinkmann B (2000) A short tandem repeat-based phylogeny for the human Y chromosome. Am Hum Genet 67: 182–196CrossRef

27.

Santos FR, Gerelsaikhan T, Munkhtuja B, Oyunsuren T, Epplen JT, Pena SDJ (1996) Geographic differences in the allelic frequencies of the human Y-linked tetranucleotide polymorphism DYS19. Hum Genet 97:39–313PubMed

28.

Kayser M, Caglià A, Corach D et al. (1997) Evaluation of Y-chromosomal STRs: a multicenter study. Int J Legal Med 110:125–133PubMed

29.

Redd AJ, Clifford SL, Stoneking M (1997) Multiplex DNA typing of short-tandem-repeat loci on the Y chromosome. Biol Chem 378:923–927PubMed

Title: Mutations in 14 Y-STR loci among Japanese father-son haplotypes
Authors: Rina Kurihara
Toshimichi Yamamoto
Rieko Uchihi
Shi-Lin Li
Takashi Yoshimoto
Hiroyuki Ohtaki
Kiyofumi Kamiyama
Yoshinao Katsumata
Publication date: 01-06-2004
Publisher: Springer-Verlag
Published in: International Journal of Legal Medicine / Issue 3/2004
Print ISSN: 0937-9827
Electronic ISSN: 1437-1596
DOI: https://doi.org/10.1007/s00414-003-0422-3

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Mutations in 14 Y-STR loci among Japanese father-son haplotypes

Abstract

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Abstract

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