Clinical and Molecular Characterization af autosomal recessive chronic granulomatous disease caused by p47-phox deficiency
| Autor: | Mónica Cornejo De L, Pablo J Patiño G., Juan A. López Q, Diana García de O, Sara Navarro V |
|---|---|
| Rok vydání: | 2000 |
| Předmět: |
Respiratory burst
Mutation NADPH oxidase Phagocyte medicine.diagnostic_test Superoxide General Medicine Biology medicine.disease medicine.disease_cause Molecular biology law.invention chemistry.chemical_compound Exon Chronic granulomatous disease medicine.anatomical_structure Granulomatous disease chronic chemistry Western blot law DNA mutational analysis medicine Gene Polymerase chain reaction |
| Zdroj: | Revista médica de Chile, Volume: 128, Issue: 5, Pages: 490-498, Published: MAY 2000 Revista médica de Chile v.128 n.5 2000 SciELO Chile CONICYT Chile instacron:CONICYT |
| ISSN: | 0034-9887 |
| DOI: | 10.4067/s0034-98872000000500006 |
| Popis: | Background: The cytosolic protein p47-phox (phagocyte oxidase) is one of the essential components of the superoxide generating system in phagocytes and its defect causes approximately 30% of the chronic granulomatous disease (CGD) cases. Aim: Two patients were studied, belonging to the same family, without a consanguinous background, in which deficiency or absence of superoxide generation was found together with recurrent and severe infections in one case and benign infections in the second. Methods: The presence of gp91-, p67- and p47-phox in patients and controls was determined by Western Blot analysis of granulocytes. Sequencing of PCR amplified DNA was performed by an enzimatic method. Results: Western Blot analysis showed normal expression of gp91 and p67 and absence of p47-phox. The molecular genetic study demonstrated a homocygotic dinucleotide GT (GT) deletion at the beginning of exon 2 of the p47-phox gene. The same mutation has been found in European, American and Japanese patients. Conclusions: The molecular characterization of this pathology done for the first time in Chile is important for diagnostic classification, patient prognosis, and adequate genetic advice and a possible future therapy. (Rev Méd Chile 2000; 128: 490-8). |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|