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Master's Dissertation
DOI
10.11606/D.42.2014.tde-11072014-130927
Document
Author
Full name
Nuria Bengala Zurro
Institute/School/College
Knowledge Area
Date of Defense
Published
São Paulo, 2013
Supervisor
Committee
Condino Neto, Antonio (President)
Carvalho, Beatriz Tavares Costa
Steiner, Alexandre Alarcon
Title in Portuguese
Espectro clínico e defeitos genético-moleculares de pacientes com doença granulomatosa crônica.
Keywords in Portuguese
CYBB
NCF1
Doença granulomatosa crônica
Fagócitos
Sistema NADPH oxidase
Abstract in Portuguese
A doença granulomatosa crônica é uma imunodeficiência primária dos fagócitos causada por mutações no sistema NADPH oxidase resultando em burst oxidativo ausente ou reduzido. Nosso objetivo foi realizar uma análise genética molecular do complexo NADPH oxidase em pacientes com diagnóstico clínico de DGC. Cinqüenta e quatro pacientes com diagnóstico clínico sugestivo da DGC foram incluídos em nosso estudo. As populações de neutrófilos e monócitos foram avaliadas pela capacidade de produzir peróxido de hidrogênio por meio do teste de DHR. Dezoito pacientes apresentaram defeito no burst oxidativo, enquanto trinta e oito apresentaram produção de peróxido normal. O DNA genômico dos dezoito pacientes com burst oxidativo diminuído foi extraído, os genes da cadeia beta polipeptídica do complexo citocromo b e o factor citoplasmático de neutrófilos, foram sequenciados. Sete pacientes apresentaram diferentes mutações, tanto no gene CYBB como no NCF1. Concluímos que a combinação do teste de DHR e o sequenciamento direto são métodos eficazes para o diagnóstico genético da DGC.
Title in English
Clinical spectrum and molecular genetic defects in patients with chronic granulomatous disease.
Keywords in English
CYBB
NCF1
Chronic granulomatous disease
NADPH system oxidase
Phagocytes
Abstract in English
Chronic granulomatous disease is a primary immunodeficiency caused by mutations in the phagocyte NADPH oxidase system resulting in absent or reduced oxidative burst. Our goal was to perform a molecular genetic analysis of complex NADPH oxidase in patients with clinical diagnosis of CGD. Fifty-four patients with a clinical diagnosis of CGD were included in our study. The populations of neutrophils and monocytes were evaluated for the ability to produce hydrogen peroxide through the DHR test. Eighteen patients had a defect in the oxidative burst, while thirty-eight had normal peroxide production. Genomic DNA of the eighteen patients with decreased oxidative burst was extracted, the genes the chain complex cytochrome beta polypeptide and the neutrophil cytoplasmic factor, were sequenced. Seven patients had different mutations, both in the CYBB gene as in NCF1. We conclude that the combination of direct sequencing and DHR test methods are effective for the genetic diagnosis of CGD.
 
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Publishing Date
2014-07-11
 
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