rss
J Med Genet 1998;35:122-125 doi:10.1136/jmg.35.2.122
  • Research Article

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.

      This Article

      1. Abstract
      2. PDF

      Responses

      1. Submit a response
      2. No responses published

      Register for free content

      The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.

      Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.