Identification of Cystic Fibrosis Mutations
Using oligonucleotide primers from the sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene we have employed the polymerase chain reaction to amplify several coding exons. These regions have been examined from 110 patients that contain 127 chromosomes without the common CF mutation (DeltaF508). Eight additional mutations have been identified in this group, in a total of four different exons. Most of the mutations were initially identified using an assay for single-stranded conformation polymorphisms. All mutations were subsequently characterized by direct sequencing of the amplified DNA, and can be assayed by restriction enzyme digestion or allele-specific oligonucleotide hybridization.
KeywordsCystic Fibrosis Celiac Disease Cystic Fibrosis Patient Cystic Fibrosis Gene Cystic Fibrosis Mutation
Unable to display preview. Download preview PDF.
- Andersen, D.H., 1938, Cystic fibrosis of the pancreas and its relation to celiac disease, Am. J. Dis. Child, 56:344.Google Scholar
- di Sant’Agnese, P.A., Darling, R.C., Perea, G.A., and Shea, B.A., 1953, Abnormal electrolyte composition of sweat in cystic fibrosis of the pancreas: Clinical significance and relationship to the disease, Pediatrics, 12:549.Google Scholar
- Quinton,P.M., 1983, Chloride impermeability in cystic fibrosis, Nature, 301:4 21.Google Scholar
- Riordan, J.R., Rommens, J.M., Kerem, B.-S., Alon, N., Rozmahel, R., Grzelczak, Z., Zielenski, J., Lok, S., Plavsic, N., Chou, J.-L., Drumm, M.L., Iannuzzi, M.C., Collins, F.S., and Tsui, L.-C., 1989, Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA, Science, 245:1066.PubMedCrossRefGoogle Scholar
- Rommens, J.M., Iannuzzi, M.C., Kerem, B.-S., Drumm, M.L., Melmer, G., Dean, M., Rozmahel, r., Cole, J.L., Kennedy, D., Hidaka, N., Zsiga, M., Buchwald, M., Riordan, J.R., Tsui, L.-C., and Collins, F.S., 1989, Identification of the cystic fibrosis gene: Chromosome walking and jumping, Science, 245:1059.PubMedCrossRefGoogle Scholar
- Rosenstein, B.J. and Langbaum, T.S., 1984, Diagnosis, in: Cystic Fibrosis, L.M. Taussig, ed., Thieme-Stratton, Inc., New York.Google Scholar
- White, M., Amos, J., Hsu, J.M.-C., Gerrard, B., Finn, P., and Dean, M., 1990, A frameshift mutation in the cystic fibrosis gene, Nature,.Google Scholar