Author/Authors :
Rezvani, Zahra Tehran University of Medical Sciences, Tehran , Mohammadzadeh, Iraj Babol University of Medical Sciences, Babol , Pourpak, Zahra Tehran University of Medical Sciences, Tehran , Moin, Mostafa Tehran University of Medical Sciences, Tehran , Teimourian, Shahram Tehran University of Medical Sciences, Tehran
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 C→ T in exon 8. This mutation resulted in 290 Arg→ 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
Keywords :
Chronic Granulomatous Disease , CYBB Protein , Human , Gene , Mutation
