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

Zahra Rezvani; Iraj Mohammadzadeh; Zahra Pourpak; Mostafa Moin; Shahram Teimourian

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

Iran J Allergy Asthma Immunol. 2005 Jun;4(2):103-6.

Authors

Zahra Rezvani¹, Iraj Mohammadzadeh, Zahra Pourpak, Mostafa Moin, Shahram Teimourian

Affiliation

¹ Immunology, Asthma and Allergy Research Institute, Children Medical Center, Tehran University of Medical Sciences, Tehran, Iran. [email protected].

PMID: 17301431

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.