title: CYBB Gene Mutation Detection in an Iranian Patient with Chronic Granulomatous Disease.
abstract: 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 change (-270 CA) 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.
authors.affiliation: Immunology, Asthma and Allergy Research Institute, Children Medical Center, Tehran University of Medical Sciences, Tehran, Iran. teimourian@ibb.ut.ac.ir.
authors.forename: Zahra
authors.initials: Z
authors.lastname: Rezvani
authors.forename: Iraj
authors.initials: I
authors.lastname: Mohammadzadeh
authors.forename: Zahra
authors.initials: Z
authors.lastname: Pourpak
authors.forename: Mostafa
authors.initials: M
authors.lastname: Moin
authors.forename: Shahram
authors.initials: S
authors.lastname: Teimourian