Highlights
- •Thirteen carefully selected Y-STRs are capable of differentiating fathers and sons in ca. 16% of cases.
- •The newly designed 13 Y-STR assay successfully amplifies 0.5–1 ng of DNA.
- •Rapidly mutating Y-STRs aid lineage differentiation in populations characterized by low genetic diversity.
Abstract
As microsatellites located on Y chromosome mutate with different rates, they may be
exploited in evolutionary studies, genealogical testing of a variety of populations
and even, as proven recently, aid individual identification. Currently available commercial
Y-STR kits encompass mostly low to moderately mutating loci, making them a perfect
choice for the first two applications. Some attempts have been made so far to utilize
Y-STRs to provide a discriminatory tool for forensic purposes. Although all 13 rapidly
mutating Y-STRs were already multiplexed, no single assay based on single-copy markers
allowing at least a portion of close male relatives to be differentiated from one
another is available. To fill in the blanks, we constructed and validated an assay
comprised of single-copy Y-STR markers only with a mutation rate ranging from 8 × 10−3 to 1 × 10−2. Performance of the resulting combination of nine RM Y-STRs and four moderately mutating
ones was tested on 361 father–son pairs and 1326 males from 9 populations revealing
an overall mutation rate of 1.607 × 10−1 for the assay as a whole. Application of the proposed 13 Y-STR set to differentiation
of haplotypes present among homogenous population of Buryats resulted in a threefold
increase of discrimination as compared with 10 Y-STRs from the PowerPlex® Y.
Keywords
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References
- Uni-parental markers in human identity testing including forensic DNA analysis.Biotechniques. 2007; 43: 3042
- Use of y chromosome and mitochondrial DNA population structure in tracing human migrations.Annu. Rev. Genet. 2007; 41: 539-564
- Improved specificity of YSTR typing in DNA mixture samples.Int. J. Legal Med. 2003; 117: 109-114
- A worldwide survey of human male demographic history based on Y-SNP and Y-STR data from the HGDPCEPH populations.Mol. Biol. Evol. 2010; 27: 385-393
- The Y chromosome in forensic analysis and paternity testing.Int. J. Leg. Med. 1997; 110: 118-124
- Forensic utilization of familial searches in DNA databases.Forensic Sci. Int. Genet. 2011; 5: 16-20
- Mutability of Y chromosomal microsatellites: rates, characteristics, molecular bases, and forensic implications.Am. J. Hum. Genet. 2010; 87: 341-353
- Toward male individualization with rapidly mutating Y-chromosomal short tandem repeats.Hum. Mut. 2014; 35: 1021-1032
- 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
- A global analysis of Y-chromosomal haplotype diversity for 23 STR loci.Forensic Sci. Int. Genet. 2014; https://doi.org/10.1016/j.fsigen.2014.04.008
YHRD database: http://yhrd.org.
- Future Trends in Forensic DNA Technology Seminar Series: Development of a Next Generation Y-STR Multiplex for Forensic Applications: Development of a Next Generation Y-STR Multiplex for Forensic Applications.2013 (http://www.slideshare.net/Lifetech_HID/2013-hid-universityyfilerplus (accessed 14.10.2014).)
- Allelic and haplotypic frequencies at 11 Y-STR loci in Buryats from South-East Siberia.Forensic Sci. Int. 2006; 164: 271-275
- Analysis of 16 Y STR loci in the Finnish population reveals a local reduction in the diversity of male lineages.Forensic Sci. Int. 2004; 142: 37-43
- Dissecting the Finnish male uniformity: the value of additional Y-STR loci.Forensic Sci. Int. Genet. 2011; 5: 199-201
- 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
- Primer3—new capabilities and interfaces.Nucleic Acids Res. 2012; 40: e115
Exact Binomial and Poisson Confidence Intervals: http://statpages.org/confint.html.
- Arlequin suite ver 3.5: a new series of programs to perform population genetics analyses under Linux and Windows.Mol. Ecol. Resour. 2010; 10: 564-567
- Median-joining networks for inferring intraspecific phylogenies.Mol. Biol. Evol. 1999; 16: 37-48
Network v.4.6.12 software: fluxus-engineering.com.
- DNA Commission of the International Society of Forensic Genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis.Forensic Sci. Int. 2006; 157: 187-197
- 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
- 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
- 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
- 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
- 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
- The Y-chromosome C3* star-cluster attributed to Genghis Khan's descendants is present at high frequency in the Kerey clan from Kazakhstan.Hum. Biol. 2012; 84: 79-89
Article info
Publication history
Published online: November 15, 2014
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© 2014 Elsevier Ireland Ltd. Published by Elsevier Inc. All rights reserved.
