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Haplotype and mutation analysis for newly suggested Y-STRs in Korean father–son pairs

  • Author Footnotes
    1 These authors contributed equally to this work.
    Yu Na Oh
    Footnotes
    1 These authors contributed equally to this work.
    Affiliations
    Department of Forensic Medicine, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 120-752, South Korea
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  • Author Footnotes
    1 These authors contributed equally to this work.
    Hwan Young Lee
    Footnotes
    1 These authors contributed equally to this work.
    Affiliations
    Department of Forensic Medicine, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 120-752, South Korea
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  • Eun Young Lee
    Affiliations
    Department of Forensic Medicine, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 120-752, South Korea
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  • Eun Hye Kim
    Affiliations
    Department of Forensic Medicine, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 120-752, South Korea
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  • Woo Ick Yang
    Affiliations
    Department of Forensic Medicine, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 120-752, South Korea
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  • Kyoung-Jin Shin
    Correspondence
    Corresponding author. Tel.: +82 2 2228 2481; fax: +82 2 362 0860.
    Affiliations
    Department of Forensic Medicine, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 120-752, South Korea
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  • Author Footnotes
    1 These authors contributed equally to this work.
Published:October 03, 2014DOI:https://doi.org/10.1016/j.fsigen.2014.09.023

      Highlights

      • Haplotype diversities and mutation rates were calculated for 11 newly added Y-STRs.
      • We obtained 350 different haplotypes from 351 Korean father–son pairs.
      • Overall haplotype diversity was 0.9999 and discrimination capacity was 99.72%.
      • An average estimated mutation rate was 6.66 × 10−3.
      • Mutation was mostly occurred in 3 RM Y-STRs of DYS449, DYS576 and DYS627.

      Abstract

      In this study, 363 Korean father–son haplotype transfers in 351 families were analyzed using an in-house multiplex PCR system for 14 Y-STRs (DYS385a/b, DYF387S1, DYS391, DYS449, DYS460, DYS481, DYS518, DYS533, DYS549, DYS570, DYS576, DYS627 and DYS643), that included 11 loci newly added to the PowerPlex Y23 system or the Yfiler Plus system. The Y-STRs showed gene diversity values ranging from 0.2499 to 0.9612; the multicopy Y-STR loci DYS385 and DYF387S1 had high gene diversity of 0.9612 and 0.9457, respectively. In addition, DYF387S1, which has two copies, showed three alleles in seven individuals, and micro-variant alleles were observed in 14 individuals at four loci (DYS448, DYS518, DYS570 and DYS627). Among 351 haplotypes for the 11 newly added Y-STRs, 350 different haplotypes were observed, with an overall haplotype diversity of 0.9999 and discrimination capacity of 99.72%. In 363 haplotype transfers from 351 pedigrees, 29 single-step mutations were observed at 11 Y-STRs. Locus-specific mutation rate estimates varied from 0.0 to 1.93 × 10−2, with an average estimated mutation rate of 6.66 × 10−3. Two father–son pairs had mutations at two different loci in 11 Y-STRs. The number of pairs with mutations at multiple loci increased to five when the mutation event was investigated for haplotype transfer at 28 Y-STRs including 17 Yfiler loci and 11 Y-STRs examined in this study: four father–son pairs had mutations at two loci, and one pair had mutations at three loci. Overall, mutations were frequently observed at DYS449, DYS576 and DYS627 loci, which are known to be rapidly mutating Y-STRs. Mutation rate estimates at most loci were not significantly different from rates in other populations, but estimates for DYF387S1, DYS518 and DYS570 were considerably lower in the Korean population than in other populations.

      Keywords

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