Journal ArticleDOI
Evaluation of Y-chromosomal STRs: a multicenter study
Manfred Kayser,Alessandra Caglià,Daniel Corach,Neale Fretwell,Christian Gehrig,G. Graziosi,F. Heidorn,S. Herrmann,B. Herzog,M. Hidding,Katsuya Honda,Mark A. Jobling,Michael Krawczak,K. Leim,S. Meuser,E. Meyer,W. Oesterreich,Arpita Pandya,Walther Parson,Gustavo Penacino,Anna Pérez-Lezaun,Andrea Piccinini,Mechthild Prinz,C. Schmitt,Peter M. Schneider,Reinhard Szibor,J. Teifel-Greding,G. Weichhold,P. de Knijff,Lutz Roewer +29 more
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TLDR
It is suggested that Y-STR loci are useful markers to identify males and male lineages in forensic practice and recommended for the forensic application of a basic set of 7 STRs for standard Y-haplotyping in forensic and paternity casework.Abstract:
A multicenter study has been carried out to characterize 13 polymorphic short tandem repeat (STR) systems located on the male specific part of the human Y chromosome (DYS19, DYS288, DYS385, DYS388, DYS389I/II, DYS390, DYS391, DYS392, DYS393, YCAI, YCAII, YCAIII, DXYS156Y). Amplification parameters and electrophoresis protocols including multiplex approaches were compiled. The typing of non-recombining Y loci with uniparental inheritance requires special attention to population substructuring due to prevalent male lineages. To assess the extent of these subheterogeneities up to 3825 unrelated males were typed in up to 48 population samples for the respective loci. A consistent repeat based nomenclature for most of the loci has been introduced. Moreover we have estimated the average mutation rate for DYS19 in 626 confirmed father-son pairs as 3.2 × 10–3 (95% confidence interval limits of 0.00041–0.00677), a value which can also be expected for other Y-STR loci with similar repeat structure. Recommendations are given for the forensic application of a basic set of 7 STRs (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393) for standard Y-haplotyping in forensic and paternity casework. We recommend further the inclusion of the highly polymorphic bilocal Y-STRs DYS385, YCAII, YCAIII for a nearly complete individualisation of almost any given unrelated male individual. Together, these results suggest that Y-STR loci are useful markers to identify males and male lineages in forensic practice.read more
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Journal ArticleDOI
Genetics and genomics of core short tandem repeat loci used in human identity testing.
TL;DR: The physical location of each STR locus in the human genome is delineated and allele ranges and variants observed in human populations are summarized as are mutation rates observed from parentage testing.
Journal ArticleDOI
The Distribution of Human Genetic Diversity: A Comparison of Mitochondrial, Autosomal, and Y-Chromosome Data
Lynn B. Jorde,W. S. Watkins,Michael J. Bamshad,Missy Dixon,C. E. Ricker,Mark Seielstad,Mark A. Batzer +6 more
TL;DR: Analysis of worldwide genetic variation among 255 individuals by using autosomal, mitochondrial, and Y-chromosome polymorphisms reveals substantial congruity among this diverse array of genetic systems and offers broad support for an African origin of modern human populations.
Journal ArticleDOI
DNA Commission of the International Society of Forensic Genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis.
Leonor Gusmão,John M. Butler,Angel Carracedo,Peter Gill,Manfred Kayser,Wolfgang R. Mayr,Niels Morling,Mechthild Prinz,Lutz Roewer,Chris Tyler-Smith,Peter M. Schneider +10 more
TL;DR: The DNA Commission of the International Society of Forensic Genetics regularly publishes guidelines and recommendations concerning the application of DNA polymorphisms to the problems of human identification, and the current recommendations address important aspects to clarify problems regarding the nomenclature, the definition of loci and alleles, population genetics and reporting methods.
Journal ArticleDOI
Improving human forensics through advances in genetics, genomics and molecular biology
Manfred Kayser,Peter de Knijff +1 more
TL;DR: Advances in genetics, genomics and molecular biology are likely to improve human forensic case work in the near future, including new molecular approaches for finding individuals previously unknown to investigators, and new molecular methods to support links between forensic sample donors and criminal acts.
Journal ArticleDOI
The y chromosome in forensic analysis and paternity testing
TL;DR: Y haplotyping is most likely to find application in special instances, such as deficiency cases in paternity testing and in the analysis of mixtures of male and female DNA, or in combination with autosomal markers.
References
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Journal ArticleDOI
Analysis of Gene Diversity in Subdivided Populations
TL;DR: A method is presented by which the gene diversity (heterozygosity) of a subdivided population can be analyzed into its components, i.e., the gene diversities within and between subpopulations.
Journal ArticleDOI
Mutation of human short tandem repeats
James L. Weber,Carmen Wong +1 more
TL;DR: A total of 20,000 parent-offspring transfers of alleles were examined through the genotyping within 40 CEPH reference families of 28 short tandem repeat polymorphisms (STRPs) located on chromosome 19, and the average mutation rate was nearly four times higher than the average rate for dinucleotide STRPs.
Journal ArticleDOI
Informativeness of human (dC-dA)n.(dG-dT)n polymorphisms.
TL;DR: The longest run of uninterrupted CA or GT repeats was found to be the best predictor of informativeness of (dC-dA)n.(dG-dT)n polymorphisms regardless of the repeat sequence category.
Journal ArticleDOI
Stepwise mutation model and distribution of allelic frequencies in a finite population.
Motoo Kimura,Tomoko Ohta +1 more
TL;DR: It is shown that the stepwise mutation model has a remarkable property that distinguishes it from the conventional infinite allele model (Kimura-Crow model): as the population size increases indefinitely while the product of the effective population size and the mutation rate is kept at a fixed value, the mean number of different alleles contained in the population rapidly reaches a plateau.
Journal Article
Evaluation of 13 short tandem repeat loci for use in personal identification applications.
TL;DR: A PCR-based DNA-typing method using 13 unlinked short tandem repeat (STR) loci is presented to provide a rapid, sensitive, and reliable method of DNA typing for parentage testing, forensic identification, and medical diagnostics.
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