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

Abstract excerpt

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...

Topics

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