Taxas de mutação de 14STRs autossômicas na populaçãode Pernambuco

by de Andrade, Edilene Santos

Abstract (Summary)
Definition about mutation rates of Short tandem repeats (STRs) loci used in forensic analysis are useful for the correct interpretation of resulting genetic profiles and the definition of criterions for exclusion in paternity testing. Germline mutation of 14 STR loci was studied for 54,105 parent?child allelic transfers from 2,575 paternity testing cases carried out during 2000-2007 in the population of Pernambuco State,Northeast of Brazil. The parenthood in each of these cases was highly validated (probability gt; 99.99%). We identified 43 mutations at 12 loci. Locus-specific mutation rate estimates varied between 2 x 10-4 and 2 x 10-3, and the overall mutation rate estimate was 8 x 10-4. Mutation events in the male germ line were more frequent than in the female germ line. The majority of the mutations (95%) could be explained by losses or gains of one repeat unit and there was no evidence for selection between insertion or deletion changes. Our data were compared with those of the American and European populations and demonstrated that mutation rates of STR loci not differ among different populations
This document abstract is also available in Portuguese.
Bibliographical Information:

Advisor:Rosilda dos Santos Silva

School:Universidade Federal de Pernambuco

School Location:Brazil

Source Type:Master's Thesis

Keywords:Short Tandem Repeats Repeats, Mutation rates Paternity testing


Date of Publication:02/22/2008

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