Document Detail

Mutation and mutation rates at Y chromosome specific Short Tandem Repeat Polymorphisms (STRs): A reappraisal.
MedLine Citation:
PMID:  24528575     Owner:  NLM     Status:  In-Data-Review    
Mutation is a topic of intense research and raises important problems in forensics. Since the markers of choice in current forensic genetics analyses are microsatellites or Short Tandem Repeat Polymorphisms (STRs), mutation is sufficiently common to cause difficulties in evaluating DNA evidence in a significant proportion of cases but at the same time rare enough to turn the estimation of the corresponding probability of occurrence into a hard task. We address these issues using the simplest model of transmission: the Y chromosome specific STRs. Within this model, and under an explicit set of definitions and involved assumptions, we developed the theoretical framework required for the study of allelic transitions in gametogenesis, identifying the required parameters and associated probabilities and finally we discuss the estimation of these parameters and their application in forensics. We conclude that (i) for forensic casework the relevant parameter for incorporation in a likelihood ratio is biallelic specific (i.e. the mutation rate estimate corresponds to the probability of the specific allelic transition observed) and (ii) for these estimates as well as in order to provide data for testing mutation models the absolute frequency of mutated and non-mutated transmissions per allele, along with the description of the observed mutations should be reported.
Nádia Pinto; Leonor Gusmão; António Amorim
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Publication Detail:
Type:  Journal Article     Date:  2013-10-31
Journal Detail:
Title:  Forensic science international. Genetics     Volume:  9     ISSN:  1878-0326     ISO Abbreviation:  Forensic Sci Int Genet     Publication Date:  2014 Mar 
Date Detail:
Created Date:  2014-02-17     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101317016     Medline TA:  Forensic Sci Int Genet     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  20-4     Citation Subset:  IM    
Copyright Information:
Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.
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