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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.

Original publication

DOI

10.1136/jmg.35.2.122

Type

Journal article

Journal

Journal of medical genetics

Publication Date

02/1998

Volume

35

Pages

122 - 125

Addresses

Human Genetics Unit, University of Edinburgh, Western General Hospital, UK.

Keywords

Sweat, Humans, Cystic Fibrosis, Exocrine Pancreatic Insufficiency, DNA, Health Surveys, Genetics, Population, Gene Frequency, Heterozygote, Genes, Dominant, Mutation, Alleles, Adolescent, Adult, Child, Infant, Scotland, Female, Male