| Autor: |
Tajik, Shaghayegh, Badalzadeh, Mohsen, Fazlollahi, Mohammad Reza, Fattahi, Fatemeh, Alizadeh, Zahra, Adab, Zeinab, Heidarnazhad, Hassan, Pourpak, Zahra, Houshmand, Massoud, Movahedi, Massoud, Khotaei, Ghamar Taj, Hamidieh, Amir Ali |
| Předmět: |
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| Zdroj: |
Turkish Journal of Immunology; 2016 Supplement, Vol. 4, p40-40, 1/2p |
| Abstrakt: |
Background: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency (approximately 1 case in 200.000-250.000 newborns) caused by defect in one of the components of nicotinamide adenine dinucleotide phosphate (NADPH)-oxidase enzyme (membrane-bound glycoproteins gp91, and cytosolic subunits p47-phox, p67-phox, p40-phox and p22-phox). This leads to defective intracellular killing by phagocyte cells. One of the components of NADPH-oxidase is p22-phox which is encoded by CYBA gene. In this study were identified new genetic changes of CYBA in 22 Iranian patients with autosomal recessive-CGD (AR-CGD). Methods: Twenty two CGD patients based on defect in NADPH oxidase activity (by NBT slide test and DHR-123 assay) and their demographic data and clinical histories were entered this study. They were referred to Immunology, Asthma and Allergy Research Institute (IAARI) for diagnosis and treatment. All patients had p22-phox deficiency based on western blotting. Genomic DNA was extracted from peripheral blood mononuclear cells (PBMCs) and PCR followed by direct sequencing to find p22-phox mutations. Results: Mutation analysis of CYBA revealed 12 different mutations, including three novel mutations: one deletion in exon 1, and two transitions in exon 3 [c.136G>A (p.Gly46Ser)], and exon 6 [c.388C>T (p.Gln130X)]. Conclusions: Three new mutations of CYBA gene in 4 of 22 Iranian patients with AR-CGD were found. These 3 novel mutations can partly complete the data base of Human Gene Mutation Database (HGMD). It can also be helpful for further prenatal diagnosis of next children in the affected families. Also it will be useful for timely decision making in bone marrow transplantation as treatment for CGD patients. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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