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

Eur J Pediatr. 1993 Jun;152(6):469-72. doi: 10.1007/BF01955051.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alanine / genetics*
  • Child
  • Cytochrome b Group / genetics*
  • Genetic Linkage*
  • Glutamates / genetics*
  • Glutamic Acid
  • Granulomatous Disease, Chronic / genetics*
  • Humans
  • Male
  • Molecular Biology
  • NADPH Oxidases*
  • Point Mutation
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • X Chromosome*

Substances

  • Cytochrome b Group
  • Glutamates
  • Glutamic Acid
  • cytochrome b558
  • NADPH Oxidases
  • Alanine