Genotype/phenotype association in cystic fibrosis: analyses of the delta F508, R553X, and 3905insT mutations.

摘要: A striking clinical phenomenon of cystic fibrosis is the heterogeneous disease expression. It must therefore be assumed that nature mutations associated with might partly determine phenotypic manifestations. The relation between delta F508, R553X, and 3905insT parameters such as sweat test electrolytes, age at chronic Pseudomonas aeruginosa colonization, Chrispin-Norman x-ray scores, relative underweight have been investigated in 45 patients homozygous for F508 (delta F2), 12 compound heterozygotes F508/R553X F1/RX1), three R553X homozygotes (RX2), 13 heterozygous F508/3905insT F16). We found significant differences genetically defined subgroups concerning mean onset cumulative incidence P. colonization scores. results well some trends regarding demonstrate a milder course more severe F16 group compared to homozygotes. presented two-stage showing mild progression before infection after y. findings here indicate specific can influence severity disease, implicating importance mutation haplotype analyses. However, wide variations within homogeneous illustrate other determinants status do exist.