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Mutation and Mutation Rates at Y Chromosome Specific Short Tandem Repeat Polymorphisms (STRs): A Reappraisal

NCJ Number
245528
Journal
Forensic Science International: Genetics Volume: 9 Dated: March 2014 Pages: 20-24
Author(s)
Nadia Pinto; Leonor Gusmao; Antonio Amorim
Date Published
March 2014
Length
5 pages
Annotation
This study formalized a unified approach to the problems related to germinal mutation and mutation rates observed in father/son duos under the most simple model of transmission (uni-parental, without recombination), using a single type of markers (Y chromosome specific microsatellites or short tandem repeats, Y-STRs) and a specific detection methodology (capillary electrophoresis of DNA fragments obtained by PCR).
Abstract
The authors conclude that the approach they suggest in this paper achieves soundness and accuracy of the estimates of the Y-STRs mutation rates in forensic routine. They advise that if progress is to occur in the statistical incorporation of Y-STR mutation into the standard algorithms used in forensics, two basic steps are involved. First, for forensic casework, the relevant parameter for incorporation in a likelihood ratio is biallelic specific, i.e., the estimate of the mutation rate corresponds to the probability of the specific allelic transition observed. Second, for these estimates and in order to provide data for testing mutation models, the absolute frequency of mutated and non-mutated transmission per allele should be reported, along with the description of the observed mutations. 3 tables and 12 references