A frame-shift mutation in the cystic fibrosis gene (original) (raw)

Nature volume 344, pages 665–667 (1990)Cite this article

Abstract

CYSTICfibrosis (CF) is a common recessive lethal genetic disorder, affecting 1 in 1,600 Caucasians1. The disease causes defective regulation of chloride-ion transport in exocrine cells2–5. Although in all CF families the disease is linked to a locus on chromosome 7q31 (refs 6-11), there is clinical heterogeneity in the severity of the disease and the age at which it is diagnosed. CF is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene12–13. A three-nucleotide deletion (δF508) causing the loss of a phenylalanine residue in the tenth exon of the CFTR gene has been found on 70% of CF chromosomes12–14 We have now characterized a CF family in which neither parent of the affected individual carries the common mutation, and identified a two-nucleotide insertion in the CF allele of the mother. The mutation introduces a termination codon in exon 13 of the CFTR gene at residue 821, and is predicted to result in the production of a severely truncated nonfunctional protein.

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Authors and Affiliations

  1. Laboratory of Viral Carcinogenesis, National Cancer Institute, Frederick, Maryland, 21701, USA
    Marga B. White, Bernard Gerrard & Michael Dean
  2. Boston University Medical Center, Boston, Massachusetts, 21128, USA
    Jean Amos & Paula Finn
  3. Wayne State University School of Medicine, Detroit, Minnesota, 48201, USA
    Julie M. C. Hsu

Authors

  1. Marga B. White
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  2. Jean Amos
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  3. Julie M. C. Hsu
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  4. Bernard Gerrard
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  5. Paula Finn
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  6. Michael Dean
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White, M., Amos, J., Hsu, J. et al. A frame-shift mutation in the cystic fibrosis gene.Nature 344, 665–667 (1990). https://doi.org/10.1038/344665a0

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