Top

Published in:

01-03-2007 | Original Article

Haplotypes and mutation analysis of 22 Y-chromosomal STRs in Korean father–son pairs

Authors: Hwan Young Lee, Myung Jin Park, Ukhee Chung, Han Young Lee, Woo Ick Yang, Sang-Ho Cho, Kyoung-Jin Shin

Published in: International Journal of Legal Medicine | Issue 2/2007

Abstract

We analyzed 369 Korean father/son haplotype transfers in 355 families at 22 Y-STRs (DYS19, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS385, DYS388, DYS437, DYS438, DYS439, DYS446, DYS447, DYS448, DYS449, DYS456, DYS458, DYS464, DYS635, and GATA H4.1). A total of 350 haplotypes were observed with an overall haplotype diversity of 0.9999. Among these, 345 were unique and five were found twice. Furthermore, 36 mutations were identified, giving locus-specific mutation rate estimates between 0.0 and 19.0 × 10⁻³ per generation and an average mutation rate estimate of 3.9 × 10⁻³ (95% CI 2.7–5.4 × 10⁻³). The compilation of Y-STR mutation events for the present study and previous studies demonstrates that DYS449, DYS458, DYS635, DYS456 and DYS439 are the most prone to mutations and that their overall average mutation rate estimate is 2.36 × 10^–3 (95% CI 2.03–2.73 × 10^–33).

Available only for authorised users

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 89:389–394PubMedCrossRef

Jobling MA, Tyler-Smith C (1995) Fathers and sons: the Y chromosome and human evolution. Trends Genet 11:449–456PubMedCrossRef

Jobling MA, Pandya A, Tyler-Smith C (1997) The Y chromosome in forensic analysis and paternity testing. Int J Leg Med 110:118–124CrossRef

Kayser M, Caglià A, Corach D et al (1997) Evaluation of Y-chromosomal STRs: a multicenter study. Int J Leg Med 110:125–133, 141–149

Kwak KD, Jin HJ, Shin DJ et al (2005) Y-chromosomal STR haplotypes and their applications to forensic and population studies in east Asia. Int J Leg Med 119:195–201CrossRef

Kayser M, Sajantila A (2001) Mutations at Y-STR loci: implications for paternity testing and forensic analysis. Forensic Sci Int 118:116–121PubMedCrossRef

Jobling MA, Pandya A, Tyler-Smith C (1997) The Y chromosome in forensic analysis and paternity testing. Int J Leg Med 110:118–124CrossRef

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 66:1580–1588PubMedCrossRef

Zerjal T, Dashnyam B, Pandya A et al (1997) Genetic relationships of Asians and Northern Europeans, revealed by Y-chromosomal DNA analysis. Am J Hum Genet 60:1174–1183PubMed

10.

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 63:1862–1871PubMedCrossRef

11.

Lahermo P, Savontaus ML, Sistonen P, Béres J, de Knijff P, Aula P, Sajantila A (1999) Y chromosomal polymorphisms reveal founding lineages in the Finns and the Saami. Eur J Hum Genet 7:447–458PubMedCrossRef

12.

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 6:799–803PubMedCrossRef

13.

Tsai LC, Yuen TY, Hsieh HM, Lin M, Tzeng CH, Huang NE, Linacre A, Lee JC (2002) Haplotype frequencies of nine Y-chromosome STR loci in the Taiwanese Han population. Int J Leg Med 116:179–183CrossRef

14.

Berger B, Niederstätter H, Brandstätter A, Parson W (2003) Molecular characterization and Austrian Caucasian population data of the multi-copy Y-chromosomal STR DYS464. Forensic Sci Int 137:221–230PubMedCrossRef

15.

Dupuy BM, Stenersen M, Egeland T, Olaisen B (2004) Y-chromosomal microsatellite mutation rates: differences in mutation rate between and within loci. Hum Mutat 23:117–124PubMedCrossRef

16.

Kurihara R, Yamamoto T, Uchihi R et al (2004) Mutations in 14 Y-STR loci among Japanese father–son haplotypes. Int J Leg Med 118:125–131CrossRef

17.

Ballard DJ, Phillips C, Wright G, Thacker CR, Robson C, Revoir AP, Court DS (2005) A study of mutation rates and the characterisation of intermediate, null and duplicated alleles for 13 Y chromosome STRs. Forensic Sci Int 155:65–70PubMedCrossRef

18.

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 150:1–15PubMedCrossRef

19.

de Souza Goes AC, de Carvalho EF, Gomes I, da Silva DA, Gil EH, Amorim A, Gusmao L (2005) Population and mutation analysis of 17 Y-STR loci from Rio de Janeiro (Brazil). Int J Leg Med 119:70–76CrossRef

20.

Gusmão L, Sánchez-Diz P, Calafell F et al (2005) Mutation rates at Y chromosome specific microsatellites. Hum Mutat 26:520–528PubMedCrossRef

21.

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 Leg Med 120:56–59CrossRef

22.

Berger B, Lindinger A, Niederstätter H, Grubwieser P, Parson W (2005) Y-STR typing of an Austrian population sample using a 17-loci multiplex PCR assay. Int J Leg Med 119:241–246CrossRef

23.

Gusmão 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 120:191–200CrossRef

24.

Nei M (1997) Molecular evolutionary genetics. Columbia University Press, New York

25.

Schneider S, Roessli D, Excoffier L (2000) Arlequin: a software for population genetics data analysis, Ver 2.000. Genetics and Biometry Lab, Department of Anthropology, University of Geneva

26.

Clopper CJ, Pearson ES (1934) The use of confidence or fiducial limits illustrated in the case of the binomial. Biometrika 26:404–413CrossRef

27.

Evett I, Weir B (1998) Interpreting DNA evidence: statistical genetics for forensic scientists. Sinauer Associates, Sunderland, Massachusetts

28.

Butler JM, Schoske R (2005) US population data for the multi-copy Y-STR locus DYS464. J Forensic Sci 50:975–977PubMed

29.

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

30.

Zhivotovsky LA, Feldman MW (1995) Microsatellite variability and genetic distances. Proc Natl Acad Sci U S A 92:11549–11552PubMedCrossRef

31.

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

Title: Haplotypes and mutation analysis of 22 Y-chromosomal STRs in Korean father–son pairs
Authors: Hwan Young Lee
Myung Jin Park
Ukhee Chung
Han Young Lee
Woo Ick Yang
Sang-Ho Cho
Kyoung-Jin Shin
Publication date: 01-03-2007
Publisher: Springer-Verlag
Published in: International Journal of Legal Medicine / Issue 2/2007
Print ISSN: 0937-9827
Electronic ISSN: 1437-1596
DOI: https://doi.org/10.1007/s00414-006-0130-x

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Haplotypes and mutation analysis of 22 Y-chromosomal STRs in Korean father–son pairs

Abstract

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 2/2007

Changes in colour of different human tissues as a marker of age

Variation of 52 new Y-STR loci in the Y Chromosome Consortium worldwide panel of 76 diverse individuals

Fatal outcome in a child after ingestion of a transdermal fentanyl patch

Successful RNA extraction from various human postmortem tissues

Best practice in forensic entomology—standards and guidelines

Clinical forensic radiology in strangulation victims: forensic expertise based on magnetic resonance imaging (MRI) findings