Human Genetics

, Volume 98, Issue 4, pp 452–453

A point mutation in exon 7 of the C1-inhibitor gene causing type I hereditary angioedema

  • H. Ono
  • Hiroshi Kawaguchi
  • Norihisa Ishii
  • Hiroshi Nakajima
Original investigation

DOI: 10.1007/s004390050238

Cite this article as:
Ono, H., Kawaguchi, H., Ishii, N. et al. Hum Genet (1996) 98: 452. doi:10.1007/s004390050238
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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.

Copyright information

© Springer-Verlag Berlin Heidelberg 1996

Authors and Affiliations

  • H. Ono
    • 1
  • Hiroshi Kawaguchi
    • 1
  • Norihisa Ishii
    • 1
  • Hiroshi Nakajima
    • 1
  1. 1.Department of Dermatology, Yokohama City University School of Medicine, 3–9 Fukuura, Kanazawak-ku, Yokohama, 236, Japan Tel.: +81-45-787-2675; Fax: +81-45-786-0243JP

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