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
Article
Dans Espagnol
| 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
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Sujet Principal:
Protein kinases
/
Granulomatose septique chronique
Type d'étude:
Étude pronostique
Limites du sujet:
Adolescent
/
Adulte
/
Humains
/
Mâle
langue:
Espagnol
Texte intégral:
Rev. méd. Chile
Thème du journal:
Médicament
Année:
2000
Type:
Article
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