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| Author(s): |
Nuria Bengala Zurro
Total Authors: 1
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| Document type: | Master's Dissertation |
| Press: | São Paulo. |
| Institution: | Universidade de São Paulo (USP). Instituto de Ciências Biomédicas (ICB/SDI) |
| Defense date: | 2014-03-13 |
| Examining board members: |
Antonio Condino Neto;
Beatriz Tavares Costa Carvalho;
Alexandre Alarcon Steiner
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| Advisor: | Antonio Condino Neto |
| Abstract | |
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. (AU) | |
| FAPESP's process: | 11/16151-2 - CLINICAL SPECTRUM AND MOLECULAR-GENETIC DEFECTS IN PATIENTS WITH CHRONIC GRANULOMATOUS DISEASE |
| Grantee: | Nuria Bengala Zurro |
| Support Opportunities: | Scholarships in Brazil - Master |