International Journal of Legal Medicine

, Volume 123, Issue 5, pp 413–418 | Cite as

Reduced-volume and low-volume typing of Y-chromosomal SNPs to obtain Finnish Y-chromosomal compound haplotypes

  • Marielle Heinrich
  • Tina Braun
  • Timo Sänger
  • Pekka Saukko
  • Sabine Lutz-Bonengel
  • Ulrike Schmidt
Original Article

Abstract

Single-nucleotide extension is a widespread method for typing Y-chromosomal single-nucleotide polymorphisms. In our study, we validated a multiplex minisequencing assay in a reduced-volume and in a low-volume approach. A four-plex assay was performed in a 6-µL multiplex reaction in 96-well microtiter reaction plates, which can be directly used for capillary electrophoresis. In a second approach, a six-plex assay was performed on a chemically structured glass slide. Both techniques have proven to be highly sensitive as well as time- and cost-saving, which makes them a valuable option not only for forensic purposes but also for population genetic studies where large sample numbers have to be analyzed. In the present paper, both techniques are compared and applied to analyze a population sample from the area of Turku, Finland. The most common haplogroup was found to be N1c*, which is nearly absent in western and central European populations. Additionally, 11 short tandem repeat markers were analyzed to further discriminate Y-chromosomal lineages.

Keywords

SNP Y chromosome Low-volume PCR Chip Finland Population genetic study 

Supplementary material

414_2009_358_MOESM1_ESM.doc (54 kb)
Supplementary Table 1Primer sequences and concentrations used for the four-plex (upper panel) and the six-plex (lower panel) assays, respectively. References are given for primer sequences previously published. (DOC 53 kb)
414_2009_358_MOESM2_ESM.xls (44 kb)
Supplementary Table 2Y-chromosomal compound HTs found in a population sample from Turku. Haplogroup (HG) designation according to [20]. (XLS 44 kb)

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Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  • Marielle Heinrich
    • 1
  • Tina Braun
    • 1
  • Timo Sänger
    • 1
  • Pekka Saukko
    • 2
  • Sabine Lutz-Bonengel
    • 1
  • Ulrike Schmidt
    • 1
  1. 1.Institute of Legal MedicineUniversity of FreiburgFreiburgGermany
  2. 2.Department of Forensic MedicineUniversity of TurkuTurkuFinland

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