Characterisation of nucleotide sequence variants and disease-specific mutations involving the 3' end of the C1-inhibitor gene in hereditary angio-oedema

Hum Hered. Mar-Apr 1995;45(2):98-102. doi: 10.1159/000154267.

Abstract

The sixth, seventh and eighth exons of both alleles of the C1-inhibitor gene were nucleotide sequenced in 52 individuals from 20 kindred with type I hereditary angio-oedema (HAE), 5 kindred with type II HAE and 10 control kindred. Four previously unreported nucleotide which had no disease specificity were identified in addition to a sequencing error in the eighth exon. In addition, a T-->C mutation at position 8770 (resulting in a Phe-->Leu substitution at position 291) was identified on the abnormal allele of the affected members of a family with type I HAE due to an exon 6 donor splice site mutation. The significance of this mutation is not known. Disease-specific mutations were identified in 100% of type II HAE kindred and in 20% of type I HAE kindred. The relevance of these findings to the evolving understanding of the molecular genetics of HAE is discussed.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Angioedema / genetics*
  • Base Sequence
  • Complement C1 Inactivator Proteins / genetics*
  • Exons
  • Humans
  • Molecular Sequence Data
  • Mutation*
  • Sequence Analysis, DNA

Substances

  • Complement C1 Inactivator Proteins