Abstract
The polymerase chain reaction and nucleotide sequence analysis have been used to characterize a point mutation in the seventh exon of one allele of the C1-inhibitor gene in a family with type I hereditary angioedema. A single base change (C→T) at nucleotide 1482 in C1-inhibitor converted the codon for Gln-339 to a premature translation termination codon, TAG. Family studies suggest that this mutation is reponsible for type I hereditary angioedema in a studied pedigree.
Similar content being viewed by others
Author information
Authors and Affiliations
Additional information
Received: 19 March 1996
Rights and permissions
About this article
Cite this article
Ono, H., Kawaguchi, H., Ishii, N. et al. A point mutation in exon 7 of the C1-inhibitor gene causing type I hereditary angioedema. Hum Genet 98, 452–453 (1996). https://doi.org/10.1007/s004390050238
Issue Date:
DOI: https://doi.org/10.1007/s004390050238