Advertisement
Correspondence| Volume 24, e7-e8, September 2016

Off-ladder alleles due to a single nucleotide polymorphism in the flanking region at DYS481 detected by the PowerPlex® Y23 System

  • Eun Young Lee
    Affiliations
    Department of Forensic Medicine, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, South Korea
    Search for articles by this author
  • Hwan Young Lee
    Affiliations
    Department of Forensic Medicine, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, South Korea
    Search for articles by this author
  • Kyoung-Jin Shin
    Correspondence
    Corresponding author at: Department of Forensic Medicine, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, South Korea.
    Affiliations
    Department of Forensic Medicine, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, South Korea

    Brain Korea 21 PLUS Project for Medical Science, Yonsei University, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, South Korea
    Search for articles by this author
      Several commercial kits are available for Y-chromosome short tandem repeat (STR) haplotyping for forensic purposes. The PowerPlex® Y23 System (Promega Corp., Madison, MI, USA) was recently released and has been used worldwide in several populations [
      • Purps J.
      • Siegert S.
      • Willuweit S.
      • Nagy M.
      • et al.
      A global analysis of Y-chromosomal haplotype diversity for 23 STR loci.
      ]. To accumulate South Asian haplotype data, we analyzed 270 DNA samples from Pakistani Pathans using the PowerPlex® Y23 System, which was previously used to type 22 Y-STRs (17 STRs of AmpFlSTR Yfiler™, DYS388, DYS446, DYS447, DYS449, and DYS464) [
      • Lee E.Y.
      • Shin K.J.
      • Rakha A.
      • Sim J.E.
      • Park M.J.
      • Kim N.Y.
      • Yang W.I.
      • Lee H.Y.
      Analysis of 22 Y chromosomal STR haplotypes and Y haplogroup distribution in Pathans of Pakistan.
      ]. The full haplotypes for the PowerPlex® Y23 STRs are available on the Y-chromosome haplotype reference database (http://yhrd.org) under the accession number YA003846. While genotyping the 23 Y-STRs, off-ladder alleles were observed at DYS481 in 20 of the 270 Pathan samples (Table 1). In the meantime, microvariant alleles designated as a one nucleotide intermediate allele at DYS481 were reported in only 26 of the 19,630 samples from the PowerPlex® Y23 analysis [
      • Purps J.
      • Siegert S.
      • Willuweit S.
      • Nagy M.
      • et al.
      A global analysis of Y-chromosomal haplotype diversity for 23 STR loci.
      ].
      Table 1Frequency of the off-ladder alleles at DYS481 observed in 270 Pakistani Pathan samples.
      Allele Allele No. of samples Frequency
      by PowerPlex® Y23 by sequencing
      All samples reported as off-ladder alleles at DYS481 by the PowerPlex® Y23 System contained the L266 mutation.
      18.1 18 1 0.004
      23.1 23 1 0.004
      24.1 24 7 0.026
      25.1 25 7 0.026
      26.1 26 3 0.011
      27.1 27 1 0.004
      Total 20 0.074
      a All samples reported as off-ladder alleles at DYS481 by the PowerPlex® Y23 System contained the L266 mutation.
      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'

      Subscribe:

      Subscribe to Forensic Science International: Genetics
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect

      References

        • Purps J.
        • Siegert S.
        • Willuweit S.
        • Nagy M.
        • et al.
        A global analysis of Y-chromosomal haplotype diversity for 23 STR loci.
        Forensic Sci. Int. Genet. 2014; 12: 12-23
        • Lee E.Y.
        • Shin K.J.
        • Rakha A.
        • Sim J.E.
        • Park M.J.
        • Kim N.Y.
        • Yang W.I.
        • Lee H.Y.
        Analysis of 22 Y chromosomal STR haplotypes and Y haplogroup distribution in Pathans of Pakistan.
        Forensic Sci. Int. Genet. 2014; 11: 111-116
        • Oh Y.N.
        • Lee H.Y.
        • Lee E.Y.
        • Kim E.H.
        • Yang W.I.
        • Shin K.J.
        Haplotype and mutation analysis for newly suggested Y-STRs in Korean father-son pairs.
        Forensic Sci. Int. Genet. 2015; 15: 64-68
        • Wang D.Y.
        • Green R.L.
        • Lagacé R.E.
        • Oldroyd N.J.
        • Hennessy L.K.
        • Mulero J.J.
        Identification and secondary structure analysis of a region affecting electrophoretic mobility of the STR locus SE33.
        Forensic Sci. Int. Genet. 2012; 6: 310-316
        • Davis C.
        • Ge J.
        • King J.
        • Malik N.
        • Weirich V.
        • Eisenberg A.J.
        • Budowle B.
        Variants observed for STR locus SE33: a concordance study.
        Forensic Sci. Int. Genet. 2012; 6: 494-497
        • Zucker M.
        Mfold web server for nucleic acid folding and hybridization prediction.
        Nucleic Acids Res. 2003; 31: 3406-3415