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Separate analysis of DYS385a and b versus conventional DYS385 typing: is there forensic relevance?

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Abstract

In order to determine to what extent the separate analysis of both copies of DYS385 improves Y-chromosomal short tandem repeat (Y-STR) haplotyping, we followed a recently published protocol for the separate amplification of DYS385a and DYS385b with modifications and compared the results with those obtained by conventional analysis in a population sample comprising 133 unrelated Caucasian males from Austria. Additionally, we typed all markers of the minimal haplotype (minHT) and a set of Y-chromosomal single nucleotide polymorphisms (Y-SNPs) in order to interpret the STR data depending on the Y-SNP haplogroup structure. The separate amplification of DYS385a and b improved the power of discrimination of this marker when compared to the results obtained with the conventional non-locus-discriminating amplification strategy. However, the degree of this improvement varied greatly between different haplogroups and was found to be highest in clade K. In the forensically relevant context of the minHT, the separate analysis of the DYS385 alleles had no effect on the differentiation of paternal lineages in our study. Furthermore, the amplicon lengths of 700–780 base pairs obtained in the course of the locus-discriminating approach restrict the applicability of this amplification strategy to high quality DNA samples.

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References

  • Beleza S, Alves C, Gonzalez-Neira A, Lareu M, Amorim A, Carracedo A, Gusmão L (2003) Extending STR markers in Y chromosome haplotypes. Int J Legal Med 117:27–33

    CAS  PubMed  Google Scholar 

  • Berger B, Hölzl G, Oberacher H, Niederstätter H, Huber CG, Parson W (2002) Single nucleotide polymorphism genotyping by on-line liquid chromatography-mass spectrometry in forensic science of the Y-chromosomal locus M9. J Chromatogr B 782:89–97

    Google Scholar 

  • 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 137:221–230

    Article  PubMed  Google Scholar 

  • 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 129:10–24

    Article  CAS  PubMed  Google Scholar 

  • 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 114:305–309, Forensic Sci Int 124:5–10

    Google Scholar 

  • Hurles ME, Irven C, Nicholson J et al. (1998) European Y-chromosomal lineages in Polynesians: a contrast to the population structure revealed by mtDNA. Am J Hum Genet 63:1793–1806

    CAS  PubMed  Google Scholar 

  • Hurles ME, Veitia R, Arroyo E et al. (1999) Recent male-mediated gene flow over a linguistic barrier in Iberia, suggested by analysis of a Y-chromosomal DNA polymorphism. Am J Hum Genet 65:1437–1448

    CAS  PubMed  Google Scholar 

  • Jobling MA, Tyler-Smith C (2003) The human Y chromosome: an evolutionary marker comes of age. Nat Rev Genet 4:598–612

    Article  PubMed  Google Scholar 

  • Kayser M, Caglià A, Corach D et al. (1997) Evaluation of Y-chromosomal STRs: a multicenter study. Int J Legal Med 110:125–129

    CAS  PubMed  Google Scholar 

  • 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

    Article  PubMed  Google Scholar 

  • Oberacher H, Parson W, Mühlmann R, Huber CG (2001) Analysis of polymerase chain reaction products by on-line liquid chromatography-mass spectrometry for genotyping of polymorphic short tandem repeat loci. Anal Chem 73:5109–5115

    CAS  PubMed  Google Scholar 

  • Osoegawa K, Woon PY, Zhao B, Frengen E, Tateno M, Catanese JJ, Jong PJ de (1998) An improved approach for construction of bacterial artificial chromosome libraries. Genomics 52:1–8

    CAS  PubMed  Google Scholar 

  • Parson W, Niederstätter H, Köchl S, Steinlechner M, Berger B (2001) When autosomal short tandem repeats fail: optimized primer and reaction design for Y-chromosome short tandem repeat analysis in forensic casework. Croat Med J 42:285–287

    Google Scholar 

  • Premstaller A, Oberacher H, Huber CG (2000) High-performance liquid chromatography-electrospray ionization mass spectrometry of single- and double stranded nucleic acids using monolithic capillary columns. Anal Chem 72:4386–4393

    CAS  PubMed  Google Scholar 

  • Redd AJ, Agellon AB, Kearney VA et al. (2002) Forensic value of 14 novel STRs on the human Y chromosome. Forensic Sci Int 130:97–111

    Article  CAS  PubMed  Google Scholar 

  • Roewer L, Krawczak M, Willuweit S et al. (2001) Online reference database of European Y-chromosomal short tandem repeat (STR) haplotypes. Forensic Sci Int 118:106–113

    CAS  PubMed  Google Scholar 

  • Rosser ZH, Zerjal T, Hurles ME et al. (2000) Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language. Am J Hum Genet 67:1526–1543

    CAS  PubMed  Google Scholar 

  • Santos FR, Carvalho-Silva DR, Pena SDJ (1999) PCR-based DNA profiling of human Y chromosomes. In: Epplen JT, Lubjuhn T (eds) Methods and tools in biosciences and medicine. Birkhäuser, Basel, pp 133–152

  • 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 97:61–70

    CAS  PubMed  Google Scholar 

  • Schneider S, Roessli D, Excoffier L (2000) Arlequin ver. 2.000: a software for population genetics data analysis. Genetics and Biometry Laboratory, University of Geneva, Switzerland

  • Seo Y, Takami Y, Takahama K, Yoshizawa M, Nakayama T, Yukawa N (2003) A method for genotyping Y chromosome-linked DYS385a and DYS385b loci. Leg Med 5:228–232

    Article  Google Scholar 

  • Skaletsky H, Kuroda-Kawaguchi T, Minx PJ et al. (2003) The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 423:825–837

    Article  CAS  PubMed  Google Scholar 

  • Y Chromosome Consortium (2003) A nomenclature system for the tree of human Y-chromosomal binary haplogroups. Genome Res 12:339–348

    Google Scholar 

  • Zarrabeitia MT, Riancho JA, Gusmão L, Lareu MV, Sanudo C, Amorim A, Carracedo A (2003) Spanish population data and forensic usefulness of a novel Y-STR set (DYS437, DYS438, DYS439, DYS460, DYS461, GATA A10, GATA C4, GATA H4). Int J Legal Med 117:306–311

    Article  PubMed  Google Scholar 

  • 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 60:1174–1183

    PubMed  Google Scholar 

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Acknowledgements

We thank Alexandra Lindinger for excellent technical assistance and two anonymous reviewers for valuable comments and suggestions regarding the designation of DYS385 phenotypes.

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Correspondence to Walther Parson.

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Niederstätter, H., Berger, B., Oberacher, H. et al. Separate analysis of DYS385a and b versus conventional DYS385 typing: is there forensic relevance?. Int J Legal Med 119, 1–9 (2005). https://doi.org/10.1007/s00414-004-0437-4

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  • DOI: https://doi.org/10.1007/s00414-004-0437-4

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