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Mutability of Y-chromosomal microsatellites: rates, characteristics, molecular bases, and forensic implications

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Item Type:Article
Title:Mutability of Y-chromosomal microsatellites: rates, characteristics, molecular bases, and forensic implications
Creators Name:Ballantyne, K.N. and Goedbloed, M. and Fang, R. and Schaap, O. and Lao, O. and Wollstein, A. and Choi, Y. and van Duijn, K. and Vermeulen, M. and Brauer, S. and Decorte, R. and Poetsch, M. and von Wurmb-Schwark, N. and de Knijff, P. and Labuda, D. and Vezina, H. and Knoblauch, H. and Lessig, R. and Roewer, L. and Ploski, R. and Dobosz, T. and Henke, L. and Henke, J. and Furtado, M.R. and Kayser, M.
Abstract:Nonrecombining Y-chromosomal microsatellites (Y-STRs) are widely used to infer population histories, discover genealogical relationships, and identify males for criminal justice purposes. Although a key requirement for their application is reliable mutability knowledge, empirical data are only available for a small number of Y-STRs thus far. To rectify this, we analyzed a large number of 186 Y-STR markers in nearly 2000 DNA-confirmed father-son pairs, covering an overall number of 352,999 meiotic transfers. Following confirmation by DNA sequence analysis, the retrieved mutation data were modeled via a Bayesian approach, resulting in mutation rates from 3.78 × 10(-4) (95% credible interval [CI], 1.38 × 10(-5) - 2.02 × 10(-3)) to 7.44 × 10(-2) (95% CI, 6.51 × 10(-2) - 9.09 × 10(-2)) per marker per generation. With the 924 mutations at 120 Y-STR markers, a nonsignificant excess of repeat losses versus gains (1.16:1), as well as a strong and significant excess of single-repeat versus multirepeat changes (25.23:1), was observed. Although the total repeat number influenced Y-STR locus mutability most strongly, repeat complexity, the length in base pairs of the repeated motif, and the father's age also contributed to Y-STR mutability. To exemplify how to practically utilize this knowledge, we analyzed the 13 most mutable Y-STRs in an independent sample set and empirically proved their suitability for distinguishing close and distantly related males. This finding is expected to revolutionize Y-chromosomal applications in forensic biology, from previous male lineage differentiation toward future male individual identification.
Keywords:Human, Y Chromosomes, Forensic Sciences, Genetic Loci, Genetic Markers, Microsatellite Repeats, Mutation, Paternal Age
Source:American Journal of Human Genetics
Publisher:Cell Press
Page Range:341-353
Date:10 September 2010
Official Publication:https://doi.org/10.1016/j.ajhg.2010.08.006
PubMed:View item in PubMed

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