title: Are rapidly mutating Y-short tandem repeats useful to resolve a lineage? Expanding mutability data on distant male relationships.
abstract: BACKGROUND
  Y-chromosomal short tandem repeats (Y-STRs) are essential to relate male lineages in forensic and evolutionary studies. Although large panels of Y-STR markers are now available, none possess sufficient discrimination power to distinguish close male relatives. This limit may be overcome by the use of rapidly mutating Y-STRs (RM Y-STRs), characterized by mutation rates higher than common Y-STRs. Recently, multicenter studies evaluated the ability of RM Y-STRs to differentiate father-son pairs; however, more extensive data on distantly related males are needed.
  
  
  METHODS
  A total of 157 male relative pairs separated by two to seven meiotic events, originating from Italy, were analyzed by 13 RM Y-STRs and 23 Y-STRs.
  
  
  RESULTS
  Overall, 154 mutational events were observed at RM Y-STR loci and the estimated mutation rate was of 2.59 × 10(-2) (95% confidence interval, 2.16 × 10(-2) -2.97 × 10(-2) ). A total of 105 male relative pairs showed at least one mutation in at least one locus and differentiation rates increased from 52.8% to 88.9% from the second to the fourth generation, while 23 Y-STRs provided much lower values, spanning from 10.1% to 29.6%.
  
  
  CONCLUSIONS
  These findings confirmed the higher capability of RM Y-STRs than conventional Y-STRs to resolve male lineages, thus suggesting a possible future use for forensic male individual identification.
authors.affiliation: Department of Public Health and Community Medicine, Institute of Legal Medicine, Forensic Genetic Laboratory, University of Verona, Verona, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Turrina
authors.affiliation: Department of Public Health and Community Medicine, Institute of Legal Medicine, Forensic Genetic Laboratory, University of Verona, Verona, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Caratti
authors.affiliation: Department of Public Health and Community Medicine, Institute of Legal Medicine, Forensic Genetic Laboratory, University of Verona, Verona, Italy.
authors.forename: Melissa
authors.initials: M
authors.lastname: Ferrian
authors.affiliation: Department of Public Health and Community Medicine, Institute of Legal Medicine, Forensic Genetic Laboratory, University of Verona, Verona, Italy.
authors.forename: Domenico
authors.initials: D
authors.lastname: De Leo
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D041322:Chromosomes, Human, Y / Q000235:genetics*; D056426:Genetic Loci; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D009154:Mutation