Paper Information

Title: 

MOLECULAR DIAGNOSIS OF CHRONIC GRANULOMATOUS DISEASE IN IRAN

Type: PAPER
Author(s): TEYMOURIAN S.*,POURPAK Z.,ZOMORODIAN E.,BADALZADEH M.,REZVANI Z.,MAMISHI S.,MANSOURI D.,KHOTAEI GH.,MOVAHEDI M.,MOSALAEI M.,SAMADIAN A.,KORDI A.R.,FARGHADAN M.,PARVANDEH N.,MOEIN MOSTAFA
 
 *IMMUNOLOGY, ASTHMA AND ALLERGY RESEARCH INSTITUTE, MEDICAL SCIENCES/UNIVERSITY OF TEHRAN, TEHRAN, IRAN
 
Name of Seminar: BIENNIAL CONGRESS ON IMMUNOLOGY, ASTHMA AND ALLERGY
Type of Seminar:  CONGRESS
Sponsor:  IRAN UNIVERSITY OF MEDICAL SCIENCES AND HEALTH SERVICES
Date:  2007Volume 6
 
 
Abstract: 

Background of the study: Chronic Granulomatous Disease (CGD) is a primary immunodeficiency characterized by early onset of recurrent and severe infections. The molecular defects causing CGD are heterogeneous and lead to absence, low expression, or malfunctioning of one of the phagocyte NADPH oxidase components.
 In this abstract forty-five families, thirteen of which were non-consanguineous, with clinically diagnosed CGD were studied. The method used: Neutrophil functional assays (DHR123, NBT) performed for affected members and their mothers, followed by western blot analysis and mutation screening by SSCP and sequencing.
The results obtained: Neutrophil oxidative burst assays revealed mosaic pattern in 10 mothers and western blot analysis revealed gp91 phenotype in their affected sons. Mutation screening in CYBB gene using PCR-SSCP analysis followed by sequencing, showed 8 different mutations including one novel mutation. Western blot analysis for 24 patients whose mother had no mosaic pattern by oxidative burst assays, showed 15 patients with p47º phenotype, among which 9 had delta GT. For the rest of the patients we found 6 patients with p22º phenotype, one patient with p67º phenotype and two patients who expressed all four subunits of NADPH oxidize. Molecular basis of the defects of these patients and the rest of the patients is under study. We also reached to the conclusion that the molecular defects causing CGD are strongly heterogeneous.

 
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