An RNA splice site mutation in the C1-inhibitor gene causes type I hereditary angio-oedema.
Restriction fragment length polymorphism analysis, the polymerase chain reaction and nucleotide sequencing have been used to characterise a single base substitution (G----T) at nucleotide 8863 in the C1-inhibitor gene. This destroys the 5' donor splice site recognition motif of the sixth intron. Family studies suggest that the mutation is responsible for type I hereditary angio-oedema in a studied kindred.
Siddique
Z
Z
University Department of Pathology, Western Infirmary, Glasgow, UK.
McPhaden
A R
AR
Lappin
D F
DF
Whaley
K
K
D000799:Angioedema / Q000235:genetics*; D001483:Base Sequence; D003174:Complement C1 Inactivator Proteins / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012326:RNA Splicing / Q000235:genetics*
D003174:Complement C1 Inactivator Proteins