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Master's Dissertation
DOI
10.11606/D.5.2003.tde-24092014-145038
Document
Author
Full name
Wagner Paes de Oliveira
E-mail
Institute/School/College
Knowledge Area
Date of Defense
Published
São Paulo, 2003
Supervisor
Committee
Okay, Thelma Suely (President)
Kim, Chong Ae
Porta, Gilda
Title in Portuguese
Padronização e validação de uma reação em cadeia da polimerase (PCR) para a detecção da deleção delta F508 em pacientes com diagnóstico de fibrose cística acompanhados na unidade de pneumologia do Instituto da Criança
Keywords in Portuguese
Adolescentes
Criança
Fibrose/diagnóstico
Reação em cadeia da polimerase
Abstract in Portuguese
As amostras sangüíneas de 108 pacientes com diagnóstico clínico e laboratorial de Fibrose Cística foram analisadas com o objetivo de padronizar uma PCR clássica e uma PCR- ASO para a detecção da mutação delta F508. Dos 108 pacientes analisados, 23 eram homozigotos para a deleção delta F508 (21,29%), 50 eram heterozigotos (46,29%), e 35 não portadores (32,40%). Ambas as PCR apresentaram reprodutibilidade de 100%, e houve concordância absoluta entre os resultados deste estudo e aqueles dos laboratórios de referência. Concluímos que as padronizações propostas foram bem sucedidas, e recomendamos que os pacientes sejam testados com as duas técnicas, o que, encarece a investigação laboratorial, porém, aumenta significativamente o grau de confiabilidade dos resultados
Title in English
-
Keywords in English
Adolescents
Child
Fibrosis/diagnosis
Polymerase chain reaction
Abstract in English
Blood samples were drawn from 110 clinically and laboratory diagnosed Cystic Fibrosis patients in order to standardize one classical amplification and one ASO-PCR for detecting the delta F508 mutation. Twenty-four of 110 patients (21,8%) were homozygous for the delta F508 deletion, 51 were heterozygous, and the remaining 35 (31,8%) were non-carriers. Both PCR techniques presented with 100% reproducibility, and there were no discrepancies between our results and those from the reference laboratories. We concluded that the 2 amplification systems were successfully standardized in this study, and recommended that all patients should be tested by both techniques in order to increase reliability, albeit the increment of laboratory costs
 
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WagnerPaesOliveira.pdf (746.94 Kbytes)
Publishing Date
2014-09-25
 
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