Are rapidly mutating Y-short tandem repeats useful to resolve a lineage? Expanding mutability data on distant male relationships

作者：Turrina Stefania^*; Caratti Stefano; Ferrian Melissa; De Leo Domenico

来源：Transfusion, 2016, 56(2): 533-538.

DOI：10.1111/trf.13368

BACKGROUNDY-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 METHODA 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.
RESULTSOverall, 154 mutational events were observed at RM Y-STR loci and the estimated mutation rate was of 2.59 x 10(-2) (95% confidence interval, 2.16 x 10(-2)-2.97 x 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%.
CONCLUSIONSThese 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.

• 出版日期2016-2