A single base deletion from the C1-inhibitor gene causes type I hereditary angio-oedema.
RFLP analysis, the polymerase chain reaction and nucleotide sequencing have been used to characterise a C1-inhibitor gene mutation responsible for type I hereditary angio-oedema (HAE). A single base deletion (C-16698) from the eighth exon of the C1-inhibitor gene alters the reading frame of the exon and generates a premature translation termination codon. This represents the first report of this form of C1-inhibitor gene mutation in type I HAE.
Siddique
Z
Z
University Department of Pathology, Western Infirmary, Glasgow, UK.
McPhaden
A R
AR
McCluskey
D
D
Whaley
K
K
D000595:Amino Acid Sequence; D000799:Angioedema / Q000235:genetics*; D001483:Base Sequence; D002872:Chromosome Deletion; D003174:Complement C1 Inactivator Proteins / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data
D003174:Complement C1 Inactivator Proteins