title: Type II hereditary angio-oedema associated with two mutations in one allele of the C1-inhibitor gene around the reactive-site coding region.
abstract: The polymerase chain reaction and nucleotide sequence analysis have been used to characterise two point mutations in the eighth exon of one allele of the C1-inhibitor gene in a kindred with type II hereditary angio-oedema (HAE). The mutations comprise a G to A substitution at C1-inhibitor gene nucleotide 16789 and an upstream C to T substitution at nucleotide position 16765. This represents the first report of these two mutations in the same C1-inhibitor allele in type II HAE. The molecular genetic pathogenesis of HAE is discussed in the light of these findings.
authors.affiliation: University Department of Pathology, Western Infirmary, Glasgow, UK.
authors.forename: Z
authors.initials: Z
authors.lastname: Siddique
authors.forename: A R
authors.initials: AR
authors.lastname: McPhaden
authors.forename: K
authors.initials: K
authors.lastname: Whaley
mesh_terms: D000483:Alleles; D000799:Angioedema / Q000235:genetics*; D001483:Base Sequence; D003174:Complement C1 Inactivator Proteins / Q000235:genetics*; D004277:DNA, Single-Stranded; D005091:Exons; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: D003174:Complement C1 Inactivator Proteins; D004277:DNA, Single-Stranded