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    
Abstract/OtherAbstract:
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.
Authors:
Nádia Pinto; Leonor Gusmão; António Amorim
Related Documents :
24337145 - Mutational analysis of the brca2 gene in breast carcinoma patients of kashmiri descent.
10738525 - Enzymatic characterization of four new mutations in the glucose-6 phosphatase (g6pc) ge...
23051975 - Effects of the apoe {varepsilon}2 allele on mortality and cognitive function in the old...
9584265 - Two new mutations in the 3' coding region of the glycogen debranching enzyme in a glyco...
9226185 - Wide variety of point mutations in the h gene of bombay and para-bombay individuals tha...
17309585 - Polymorphisms of tlr4 but not cd14 are associated with a decreased risk of aggressive p...
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.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Establishing a DNA identification system for pigs (Sus scrofa) using a multiplex STR amplification.
Next Document:  Fluorescent Random Amplified Microsatellites (F-RAMS) analysis of mushrooms as a forensic investigat...