An RNA splice site mutation of 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....

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Bibliographic Details
Published in:Human genetics 1991-12, Vol.88 (2), p.231-232
Main Authors: SIDDIQUE, Z, MCPHADEN, A. R, LAPPIN, D. F, WHALEY, K
Format: Article
Language:English
Subjects:
Angioedema - genetics
Base Sequence
Biological and medical sciences
Complement C1 Inactivator Proteins - genetics
Humans
Immunopathology
Introns - genetics
Medical sciences
Molecular Sequence Data
Mutation - genetics
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
RNA Splicing - genetics
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Summary: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.
ISSN:0340-6717
1432-1203
DOI:10.1007/bf00206079