Caracterización clínico molecular de la enfermedad granulomatosa crónica autosómica recesiva causada por déficit de p47-phox / Clinical and molecular characterization af autosomal recessive chronic granulomatous disease caused by p47-phox deficiency
Rev. méd. Chile
;
128(5): 490-8, mayo 2000. ilus
Artículo
en Español
| LILACS
| ID: lil-267659
ABSTRACT
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 percent 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
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Proteínas Quinasas
/
Enfermedad Granulomatosa Crónica
Tipo de estudio:
Estudio pronóstico
Límite:
Adolescente
/
Adulto
/
Humanos
/
Masculino
Idioma:
Español
Revista:
Rev. méd. Chile
Asunto de la revista:
Medicina
Año:
2000
Tipo del documento:
Artículo
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