Determining Y-STR mutation rates in deep-routing genealogies: Identification of haplogroup differences
In: Forensic Science International: Genetics, Jg. 34 (2018-05-01), S. 1-10
Online
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Zugriff:
Knowledge of Y-chromosomal short tandem repeat (Y-STR) mutation rates is essential to determine the most recent common ancestor (MRCA) in familial searching or genealogy research. Up to now, locus-specific mutation rates have been extensively examined especially for commercially available forensic Y-STRs, while haplogroup specific mutation rates have not yet been investigated in detail. Through 450 patrilineally related namesakes distributed over 212 deep-rooting genealogies, the individual mutation rates of 42 Y-STR loci were determined, including 27 forensic Y-STR loci from the Yfiler® Plus kit and 15 additional Y-STR loci (DYS388, DYS426, DYS442, DYS447, DYS454, DYS455, DYS459a/b, DYS549, DYS607, DYS643, DYS724a/b and YCAIIa/b). At least 726 mutations were observed over 148,596 meiosis and individual Y-STR mutation rates varied from 2.83 × 10−4 to 1.86 × 10−2. The mutation rate was significantly correlated with the average allele size, the complexity of the repeat motif sequence and the age of the father. Significant differences in average Y-STR mutations rates were observed when haplogroup ‘I & J’ (4.03 × 10−3 mutations/generation) was compared to ‘R1b’ (5.35 × 10−3 mutations/generation) and to the overall mutation rate (5.03 × 10−3 mutations/generation). A difference in allele size distribution was identified as the only cause for these haplogroup specific mutation rates. The haplogroup specific mutation rates were also present within the commercially available Y-STR kits (Yfiler®, PowerPlex® Y23 System and Yfiler® Plus). This observation has consequences for applications where an average Y-STR mutation rate is used, e.g. tMRCA estimations in familial searching and genealogy research.
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Determining Y-STR mutation rates in deep-routing genealogies: Identification of haplogroup differences
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Autor/in / Beteiligte Person: | Nivelle, Kelly ; Peeters, Anke ; Vandenbosch, Michiel ; Decorte, Ronny ; Larmuseau, Maarten ; Gruyters, Leen ; Claerhout, Sofie |
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Zeitschrift: | Forensic Science International: Genetics, Jg. 34 (2018-05-01), S. 1-10 |
Veröffentlichung: | Elsevier BV, 2018 |
Medientyp: | unknown |
ISSN: | 1872-4973 (print) |
DOI: | 10.1016/j.fsigen.2018.01.005 |
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