MOLECULAR TEMPORAL BONE PATHOLOGY - III - GENOTYPING OF THE DELTA-F-508 DELETION IN THE DNA OF PATIENTS WITH CYSTIC-FIBROSIS

Genomic DNA from a single celloidin-embedded archival temporal bone se ction was used to identify a specific genetic mutation. The polymerase chain reaction was used to amplify and detect the Delta F-508 deletio n, a common molecular genetic defect in cystic fibrosis, This mutation , present in more than 70% of white patients and carriers with cystic fibrosis, results in the deletion of codon 508, which specifies the am ino acid phenylalanine of the cystic fibrosis transmembrane conductanc e regulator (CFTR) gene. When this technique was applied to archival s pecimens from four patients with cystic fibrosis, all expressed the ca rrier state of this defective gene. These data demonstrate the feasibi lity of identifying genetic mutations in archival temporal bone specim ens.