Long polymerase chain reaction-based fluorescence in situ hybridization analysis of female carriers of X-linked chronic granulomatous disease deletions

Kelly Claire Simon, Deborah Noack, Julie Rae, John Curnutte, Shireen Sarraf, Valentin Kolev, Jan K. Blancato

Research output: Contribution to journalArticlepeer-review

5 Scopus citations

Abstract

Chronic granulomatous disease (CGD) is a rare inherited disorder in winch antimicrobial activity of phagocytes is impaired due to the lack of reactive oxygen species, or oxidative burst, produced by NADPH oxidase. The X-linked form of CGD, representing ∼70% of all cases, is caused by mutations in the cytochrome b β subunit (CYBB) gene, which maps to chromosome Xp21.1. CYBB encodes the gp91-phox protein, a necessary component in the NADPH oxidase pathway. A wide variety of mutations have been identified in X-linked CGD patients, all of which lead to deletion of the functional protein and no oxidative burst activity. The mutations vary from single nucleotide substitutions to deletions of the entire gene. In this article, we report a mutation detection method for probands of female relatives at risk for carrier status of large deletions of the CYBB gene. Through fluorescent in situ hybridization of metaphase chromosomes, we were able to consistently distinguish carriers from noncarriers using polymerase chain reaction-derived, labeled DNA specific for exons 2 to 13 of the CYBB region atXp21.1.

Original languageEnglish
Pages (from-to)183-186
Number of pages4
JournalJournal of Molecular Diagnostics
Volume7
Issue number2
DOIs
StatePublished - May 2005
Externally publishedYes

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