You are here

Article Text

Article menu

Download PDFPDF

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.

    https://doi.org/10.1136/jmg.35.2.122

    Statistics from Altmetric.com

      Request Permissions

      If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.