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Are rapidly mutating Y‐short tandem repeats useful to resolve a lineage? Expanding mutability data on distant male relationships
Author(s) -
Turrina Stefania,
Caratti Stefano,
Ferrian Melissa,
De Leo Domenico
Publication year - 2016
Publication title -
transfusion
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.045
H-Index - 132
eISSN - 1537-2995
pISSN - 0041-1132
DOI - 10.1111/trf.13368
Subject(s) - microsatellite , mutation rate , locus (genetics) , biology , genetics , mutation , y str , haplotype , evolutionary biology , genotype , gene , allele
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. STUDY DESIGN AND METHOD 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.