CYBB 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 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.
Rezvani
Zahra
Z
Immunology, Asthma and Allergy Research Institute, Children Medical Center, Tehran University of Medical Sciences, Tehran, Iran. teimourian@ibb.ut.ac.ir.
Mohammadzadeh
Iraj
I
Pourpak
Zahra
Z
Moin
Mostafa
M
Teimourian
Shahram
S