A novel mutation in the CYBB gene resulting in an unexpected pattern of exon skipping and chronic granulomatous disease
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چکیده
منابع مشابه
a novel cybb mutation in chronic granulomatous disease in iran
chronic granulomatous disease (cgd) is a rare primary immunodeficiency disorder due to a genetic defect in one of the components of nicotinamide adenine dinucleotide phosphate (nadph) oxidase complex. this complex is composed of membrane-bound gp91- phox and p22- phox subunits, and cytosolic subunits consisting of p47- phox , p67- phox , and p40- phox . a mutation in cybb gene encoding gp91- ph...
متن کاملA Novel CYBB Mutation in Chronic Granulomatous Disease in Iran.
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder due to a genetic defect in one of the components of nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. This complex is composed of membrane-bound gp91-phox and p22-phox subunits, and cytosolic subunits consisting of p47-phox, p67-phox, and p40-phox. A mutation in CYBB gene encoding gp91-phox locate...
متن کاملA novel mutation of the CYBB gene resulting in severe form of X-linked chronic granulomatous disease.
We evaluated a boy who had multiple Salmonella septicemia, Aspergillus pneumonia and brain abscesses. His nitroblue tetrazolium (NBT) test was reportedly abnormal. The dihydrorhodamine (DHR) flow cytometry assay was compatible with typical X-linked chronic granulomatous disease (X-CGD). CYBB analysis revealed a novel complex mutation atggacg --> ttca in exon 12 (base pairs 1532-1538). As a resu...
متن کاملcybb gene mutation detection in an iranian patient with chronic granulomatous disease
in this study, we report a mutation in cybb gene in a patient with x-cgd (diagnosed on the base of family history, ndt test, dhr 123 assay). mutation in cybb gene was detected using sscp analysis (single-strand conformation polymorphism) followed by sequencing. during screening for mutations in the cybb gene we observed 880 c t in exon 8. this mutation resulted in 290 arg stop. we also observed...
متن کاملCYBB Gene Mutation Detection in an Iranian Patient with Chronic Granulomatous Disease.
In this study, we report a mutation in CYBB gene in a patient with X-CGD (diagnosed on the base of family history, NDT test, DHR 123 assay). Mutation in CYBB gene was detected using SSCP analysis (single-strand conformation polymorphism) followed by sequencing. During screening for mutations in the CYBB gene we observed 880 CT in exon 8. This mutation resulted in 290 ArgStop. We also observed a...
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ژورنال
عنوان ژورنال: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
سال: 1999
ISSN: 0925-4439
DOI: 10.1016/s0925-4439(99)00044-7