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CYBB Gene Mutation Detection in an Iranian Patient with Chronic Granulomatous Disease

Rezvani Zahra نويسنده , Mohammadzadeh Iraj نويسنده , Pourpak Zahra نويسنده , Teimouriau Sbabram نويسنده , Teimouriau Sbabram نويسنده

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In this study, we report a mutation in CYBB gene in a patient with X-CGD (diagnosed on the base of family history, NUT 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-o Stop. We also observed a change (-270 C ~ A) in the promoter region which needs further investigation. We would like to pursue this study by analyzing more X-CGD patients to find out the CYBB mutation spectrum in Iranian patients.

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