Molecular temporal bone pathology: III. Genotyping of the ΔF508 deletion in the DNA of patients with cystic fibrosis

Phillip A. Wackym, Marc M. Kerner, Wayne W. Grody

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

Genomic DNA from a single celloidin-embedded archival temporal bone section was used to identify a specific genetic mutation. The polymerase chain reaction was used to amplify and detect the ΔF508 deletion, 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 amino acid phenylalanine of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. When this technique was applied to archival specimens from four patients with cystic fibrosis, all expressed the carrier state of this defective gene. These data demonstrate the feasibility of identifying genetic mutations in archival temporal bone specimens.

Original languageEnglish (US)
Pages (from-to)1-3
Number of pages3
JournalLaryngoscope
Volume108
Issue number8 II SUPPL. 88
DOIs
StatePublished - Aug 1998

All Science Journal Classification (ASJC) codes

  • Otorhinolaryngology

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