An RNA splice site mutation in the C1-inhibitor gene causes type I hereditary angio-oedema

Hum Genet. 1991 Dec;88(2):231-2. doi: 10.1007/BF00206079.

Abstract

Restriction fragment length polymorphism analysis, the polymerase chain reaction and nucleotide sequencing have been used to characterise a single base substitution (G----T) at nucleotide 8863 in the C1-inhibitor gene. This destroys the 5' donor splice site recognition motif of the sixth intron. Family studies suggest that the mutation is responsible for type I hereditary angio-oedema in a studied kindred.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Angioedema / genetics*
  • Base Sequence
  • Complement C1 Inactivator Proteins / genetics*
  • Humans
  • Introns / genetics
  • Molecular Sequence Data
  • Mutation / genetics
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length*
  • RNA Splicing / genetics*

Substances

  • Complement C1 Inactivator Proteins