title: A newly recognized point mutation in the cytochrome b558 heavy chain gene replacing alanine57 by glutamic acid, in a patient with cytochrome b positive X-linked chronic granulomatous disease.
abstract: Molecular genetic analysis was performed in a patient with cytochrome b positive X-linked chronic granulomatous disease. A previous Southern blot study, using a cytochrome b heavy chain cDNA as probe, revealed a Pst I restriction fragment pattern for the cytochrome b heavy chain gene (CYBB) different to that of normal individuals. Since restriction length polymorphism with Pst I has never been observed in control individuals and no abnormal restriction fragment patterns in the patient's CYBB was detected with seven other enzymes used, we focussed on the single Pst I site in the CYBB cDNA as being the only mutation site responsible for his disease. A fragment of the patient's cDNA which included the Pst I site was amplified by reverse polymerase chain reaction, and loss of the Pst I site in the fragment was confirmed by incubation with Pst I. Subsequent sequence analysis of the fragment revealed a point mutation in the Pst I site (cytosine to adenine), substituting glutamic acid for alanine at position 57.
authors.affiliation: Department of Paediatrics, Hokkaido University School of Medicine, Sapporo, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Ariga
authors.forename: Y
authors.initials: Y
authors.lastname: Sakiyama
authors.forename: K
authors.initials: K
authors.lastname: Tomizawa
authors.forename: S
authors.initials: S
authors.lastname: Imajoh-Ohmi
authors.forename: S
authors.initials: S
authors.lastname: Kanegasaki
authors.forename: S
authors.initials: S
authors.lastname: Matsumoto
mesh_terms: D000409:Alanine / Q000235:genetics*; D002648:Child; D003573:Cytochrome b Group / Q000235:genetics*; D008040:Genetic Linkage; D005971:Glutamates / Q000235:genetics*; D018698:Glutamic Acid; D006105:Granulomatous Disease, Chronic / Q000235:genetics*; D006801:Humans; D008297:Male; D008967:Molecular Biology; D019255:NADPH Oxidases; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D014960:X Chromosome
chemical_list: D003573:Cytochrome b Group; D005971:Glutamates; D018698:Glutamic Acid; C036888:cytochrome b558; D019255:NADPH Oxidases; D000409:Alanine