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dc.creatorCornejo De L,Mónica
dc.creatorLópez Q,Juan A.
dc.creatorNavarro V,Sara
dc.creatorGarcía de O,Diana
dc.creatorPatiño G.,Pablo J
dc.date2000-05-01
dc.date.accessioned2020-02-17T15:32:24Z
dc.date.available2020-02-17T15:32:24Z
dc.identifierhttps://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872000000500006
dc.identifier.urihttps://revistaschilenas.uchile.cl/handle/2250/130178
dc.descriptionBackground: 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).
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dc.languagees
dc.publisherSociedad Médica de Santiago
dc.relation10.4067/S0034-98872000000500006
dc.rightsinfo:eu-repo/semantics/openAccess
dc.sourceRevista médica de Chile v.128 n.5 2000
dc.subjectDNA mutational analysis
dc.subjectGranulomatous disease, chronic
dc.subjectNADPH oxidase
dc.subjectRespiratory burst
dc.titleCaracterización clínico - molecular de la enfermedad granulomatosa crónica autosómica recesiva causada por déficit de p47-phox


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