Mutability of Y-Chromosomal Microsatellites: Rates, Characteristics, Molecular Bases, and Forensic Implications
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2010
- handle: 10670/1.7memen
- Ballantyne Kaye N., Goedbloed Miriam, Fang Rixun, Schaap Onno, Lao Oscar, Wollstein Andreas, Choi Ying, van Duijn Kate, Vermeulen Mark, Brauer Silke, Decorte Ronny, Poetsch Micaela, von Wurmb-Schwark Nicole, de Knijff Peter, Labuda Damian, Vézina Hélène, Knoblauch Hans, Lessig Rüdiger, Roewer Lutz, Ploski Rafal, Dobosz Tadeusz, Henke Lotte, Henke Jürgen, Furtado Manohar R. et Kayser Manfred. (2010). Mutability of Y-Chromosomal Microsatellites: Rates, Characteristics, Molecular Bases, and Forensic Implications. The American Journal of Human Genetics, 87, (3), p. 341-353.
- doi: 10.1016/j.ajhg.2010.08.006
Ce document est lié à :
https://constellation.uqac.ca/id/eprint/8292/
Ce document est lié à :
https://dx.doi.org/doi:10.1016/j.ajhg.2010.08.006
Ce document est lié à :
doi:10.1016/j.ajhg.2010.08.006
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Kaye N. Ballantyne et al., « Mutability of Y-Chromosomal Microsatellites: Rates, Characteristics, Molecular Bases, and Forensic Implications », Constellation - Université du Québec à Chicoutimi, ID : 10.1016/j.ajhg.2010.08.006
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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.