title: Characterisation of nucleotide sequence variants and disease-specific mutations involving the 3' end of the C1-inhibitor gene in hereditary angio-oedema.
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.
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*; D005091:Exons; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D017422:Sequence Analysis, DNA
chemical_list: D003174:Complement C1 Inactivator Proteins