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Revista médica de Chile

versión impresa ISSN 0034-9887

Resumen

CORNEJO DE L, Mónica et al. Clinical and Molecular Characterization af autosomal recessive chronic granulomatous disease caused by p47-phox deficiency. Rev. méd. Chile [online]. 2000, vol.128, n.5, pp.490-498. ISSN 0034-9887.  http://dx.doi.org/10.4067/S0034-98872000000500006.

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).

Palabras clave : DNA mutational analysis; Granulomatous disease, chronic; NADPH oxidase; Respiratory burst.

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