| dc.creator | Cornejo De L,Mónica | |
| dc.creator | López Q,Juan A. | |
| dc.creator | Navarro V,Sara | |
| dc.creator | García de O,Diana | |
| dc.creator | Patiño G.,Pablo J | |
| dc.date | 2000-05-01 | |
| dc.date.accessioned | 2019-05-02T21:10:48Z | |
| dc.date.available | 2019-05-02T21:10:48Z | |
| dc.identifier | https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872000000500006 | |
| dc.identifier.uri | http://revistaschilenas.uchile.cl/handle/2250/81115 | |
| dc.description | 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). | |
| dc.format | text/html | |
| dc.language | es | |
| dc.publisher | Sociedad Médica de Santiago | |
| dc.relation | 10.4067/S0034-98872000000500006 | |
| dc.rights | info:eu-repo/semantics/openAccess | |
| dc.source | Revista médica de Chile v.128 n.5 2000 | |
| dc.subject | DNA mutational analysis | |
| dc.subject | Granulomatous disease, chronic | |
| dc.subject | NADPH oxidase | |
| dc.subject | Respiratory burst | |
| dc.title | Caracterización clínico - molecular de la enfermedad granulomatosa crónica autosómica recesiva causada por déficit de p47-phox | |
