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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Article info
Publication history
Published online: October 03, 2014
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© 2014 Elsevier Ireland Ltd. Published by Elsevier Inc. All rights reserved.
