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P67L: a cystic fibrosis allele with mild effects found at high frequency in the Scottish population.
  1. A Gilfillan,
  2. J P Warner,
  3. J M Kirk,
  4. T Marshall,
  5. A Greening,
  6. L P Ho,
  7. T Hargreave,
  8. B Stack,
  9. D McIntyre,
  10. R Davidson,
  11. J C Dean,
  12. W Middleton,
  13. D J Brock
  1. Human Genetics Unit, University of Edinburgh, Western General Hospital, UK.

    Abstract

    Only three mutant cystic fibrosis (CF) alleles have to date been established as conferring a dominant mild effect on affected subjects who are compound heterozygotes. We now add a fourth, P67L, which occurs on about 1.4% of Scottish CF chromosomes. Among 13 patients (12 unrelated) with this allele, the average age at diagnosis was 22.5 +/- 11.3 years. None of the cases had consistently raised sweat chloride concentrations, the average value being 57 +/- 9 mmol/l; 77% of the patients were pancreatic sufficient. When compared to three other established mild CF alleles, R117H, A455E, and 3849 + 10kb C-T, a compound heterozygote for P67L has minimal disease and clinical suspicions are unlikely to be confirmed other than by DNA typing.

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