title: Molecular analysis of X-linked chronic granulomatous disease in five unrelated Korean patients.
abstract: Chronic granulomatous disease (CGD) is a fatal genetic disorder in which phagocytes fail to produce antimicrobial superoxide because of NADPH oxidase deficiency. Molecular defects in CYBB gene causing X-linked CGD are responsible for about 70% of all cases. This study was done to confirm genetic defects of CYBB gene in five Korean patients who were highly suggestive of having CGD by clinical history. We performed initial screening for five unrelated Korean patients using single strand conformation polymorphism (SSCP) and then selective sequencing for the regions involving the abnormal bands. Activated NBT tests revealed that all patients were X-linked. SSCP analysis for CYBB gene showed abnormal bands in all patients. The molecular defects of five patients were as follows: c.1663insT, c.1111-1G>T, c.39_40insG, c.927delC and c.434T>C mutation. This result will help the families with prenatal diagnosis or genetic counseling.
authors.affiliation: Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea. hboh@amc.seoul.kr
authors.forename: Heung-Bum
authors.initials: HB
authors.lastname: Oh
authors.forename: Joon Seok
authors.initials: JS
authors.lastname: Park
authors.forename: Woochang
authors.initials: W
authors.lastname: Lee
authors.forename: Soo Jin
authors.initials: SJ
authors.lastname: Yoo
authors.forename: Jin Hyuk
authors.initials: JH
authors.lastname: Yang
authors.forename: Sun-Young
authors.initials: SY
authors.lastname: Oh
mesh_terms: D000328:Adult; D002648:Child; D041321:Chromosomes, Human, X; D004252:DNA Mutational Analysis; D008040:Genetic Linkage; D006105:Granulomatous Disease, Chronic / Q000235:genetics*; D006801:Humans; D007223:Infant; D007723:Korea; D008297:Male; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational