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Molecular temporal bone pathology: III. Genotyping of the ΔF 508 deletion in the DNA of patients with cystic fibrosis
Author(s) -
Wackym Phillip A.,
Kerner Marc M.,
Grody Wayne W.
Publication year - 1998
Publication title -
the laryngoscope
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.181
H-Index - 148
eISSN - 1531-4995
pISSN - 0023-852X
DOI - 10.1097/00005537-199808001-00001
Subject(s) - cystic fibrosis , cystic fibrosis transmembrane conductance regulator , genotyping , genomic dna , mutation , polymerase chain reaction , pathology , gene , biology , microbiology and biotechnology , genetics , genotype , medicine
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 ΔF 508 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.