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Can I read Fluorescence-based Oligonucleotide Ligation Assay for Analysis of Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations on EtoBox?
Fluorescence-based Oligonucleotide Ligation Assay for Analysis of Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations by Faye A. Eggerding; David M. Iovannisci; Eleanor Brinson; Paul Grossman; Emily S. Winn-Deen is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is Fluorescence-based Oligonucleotide Ligation Assay for Analysis of Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations about?
Isolation of the gene for cystic fibrosis (CF), the cystic fibrosis transmembrane conductance regulator (CFTR), provided a basis far analyzing its molecular pathology and resulted in the identification of > 400 mutations associated with disease. Except for the AF508 mutation, no other single mutation accounts for > 5 % of CF chromosomes in most populations, and most mutation frequencies are 96% of CF mutant chromosomes worldwide. Mutations were detected by competitive oligonucleotide probe ligation to detect normal and/or mutant genotypes in one reaction. Three probes (one common and two allelic probes) were needed for analysis of each mutation. Probes hybridized to target DNA were joined by a thermostable ligase if there were no mismatches at their junctions; temperature cycling resulted in a linear increase in product. Common probes were labeled with fluorochromes, and allelic probes each had different lengths. Ligation products were analyzed electrophoretically on a fluorescent DNA sequencer. The results show that combined PCR and probe ligation amplification rapidly and reliably screen for CF homozygotes and carriers.
Who reads Fluorescence-based Oligonucleotide Ligation Assay for Analysis of Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Faye A. Eggerding; David M. Iovannisci; Eleanor Brinson; Paul Grossman; Emily S. Winn-Deen
- Publisher
- John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley (ISSN 1059-7794)
- Published
- 1995
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)