- •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.
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.
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- Forensic DNA Typing: Biology, Technology and Genetics of STR Markers.2nd edition. Elsevier Academic Press, New York2005
- A new future of forensic Y-chromosome analysis: rapidly mutating Y-STRs for differentiating male relatives and paternal lineages.Forensic Sci. Int. Genet. 2012; 6: 208-218
- Towards male individualization with rapidly mutating Y-chromosomal STRs.Hum. Mutat. 2014; 35: 1021-1032
- Mutability of Y-chromosomal microsatellites: rates, characteristics, molecular bases, and forensic implications.Am. J. Hum. Genet. 2010; 87: 341-353
- Mutation rates at Y chromosome short tandem repeats in Texas populations.Forensic Sci. Int. Genet. 2009; 3: 179-184
- Mutations at Y-STR loci: implications for paternity testing and forensic analysis.Forensic Sci. Int. 2001; 118: 116-121
- Haplotypes and mutation analysis of 22 Y-chromosomal STRs in Korean father–son pairs.Int. J. Legal Med. 2006; 121: 128-135
- Improving global and regional resolution of male lineage differentiation by simple single-copy Y-chromosomal short tandem repeat polymorphisms.Forensic Sci. Int. Genet. 2009; 3: 205-213
- Mutation rate estimates for 110 Y-chromosome STRs combining population and father–son pair data.Eur. J. Hum. Genet. 2011; 19: 70-75
- Development and validation of the AmpFℓSTR Yfiler PCR amplification kit: a male specific, single amplification 17 Y-STR multiplex system.J. Forensic Sci. 2006; 51: 64-75
- Analysis of mutations in father–son pairs with 17 Y-STR loci.Forensic Sci. Int. Genet. 2008; 2: e31-e35
- Mutation rate at 17 Y-STR loci in “father/son pairs” from Moroccan population.Legal Med. (Tokyo). 2013; 15: 269-271
- Comprehensive mutation analysis of 17 Y-chromosomal short tandem repeat polymorphisms included in the AmpFℓSTR Yfiler PCR amplification kit.Int. J. Legal Med. 2009; 123: 471-482
- Allele frequencies and population data for 17 Y-STR loci (AmpFℓSTR® Yfiler™) in a Northern Portugueses population sample.Forensic Sci. Int. 2007; 170: 62-67
- Allele frequencies and population data for 17 Y-chromosome STR loci in a Serbian population sample from Vojvodina province.Forensic Sci. Int. 2008; 176: e23-e28
- Y-STR typing of an Austrian population sample using a 17-loci multiplex PCR assay.Int. J. Legal Med. 2005; 119: 241-246
- DNA Commission of the International Society of Forensic Genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis.Int. J. Legal Med. 2006; 120: 191-200
- Developing criteria and data to determine best options for expanding the core CODIS loci.Invest. Genet. 2012; 3: 1-14
- Developmental validation of the PowerPlex® Y23 System: a single multiplex Y-STR analysis system for casework and database samples.Forensic Sci. Int. Genet. 2013; 7: 240-250
- Haplotype data for 23 Y-chromosome markers in four U.S. population groups.Forensic Sci. Int. Genet. 2013; 7: e66-e68
- Nomenclature update and allele repeat structure for the markers DYS518 and DYS449.Forensic Sci. Int. Genet. 2014; https://doi.org/10.1016/j.fsigen.2014.04.009
- Molecular Evolutionary Genetics.Columbia University Press, New York1997
- Microsatellite variability and genetic distances.Proc. Natl. Acad. Sci. U. S. A. 1995; 92: 11549-11552
Published online: October 03, 2014
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