Molecular temporal bone pathology: III. Genotyping of the deltaF508 deletion in the DNA of patients with cystic fibrosis.
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 deltaF508 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.
Wackym
P A
PA
Department of Otolaryngology and Communication Sciences, Medical College of Wisconsin, Milwaukee 53226, USA.
Kerner
M M
MM
Grody
W W
WW
D000483:Alleles; D003550:Cystic Fibrosis / Q000235:genetics* / Q000473:pathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D017353:Gene Deletion; D006580:Genetic Carrier Screening; D005838:Genotype; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D013701:Temporal Bone / Q000473:pathology
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA