Biosensor technology for real-time detection of the cystic fibrosis W 1282X mutation in CFTR

Human Mutation

Volumn 18, Issue 1, 2001, Pages 70-81

  Feriotto, Giordana ^a   Ferlini, Alessandra ^a   Ravani, Anna ^a   Calzolari, Elisa ^a   Mischiati, Carlo ^a   Bianchi, Nicoletta ^a   Gambari, Roberto ^a,b  

^a UNIVERSITY OF FERRARA   (Italy)

^b Department of Biochemistry and Molecular Biology ^*  (Italy)

Author keywords

ABCC7; Biosensors; CF; CFTR; Cystic fibrosis; Molecular diagnosis; Mutation detection; Peptide nucleic acids; Polymerase chain reaction; Real time assays; SPR; Surface plasmon resonance

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; BIOSENSOR; CYSTIC FIBROSIS; DNA HYBRIDIZATION; DNA PROBE; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; NUCLEOTIDE SEQUENCE; OLIGONUCLEOTIDE PROBE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SURFACE PLASMON RESONANCE;

AUTOMATION; BASE SEQUENCE; BIOTINYLATION; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA MUTATIONAL ANALYSIS; DNA, SINGLE-STRANDED; GENETIC SCREENING; GENOTYPE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NUCLEIC ACID CONFORMATION; NUCLEIC ACID HYBRIDIZATION; OLIGONUCLEOTIDE PROBES; POINT MUTATION; POLYMERASE CHAIN REACTION; SURFACE PLASMON RESONANCE; TIME FACTORS;

BIA;

EID: 0034950149     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.1151     Document Type: Article

References (37)

1. Recommendations for a nomenclature system for human gene mutations
2. Clinical experience with preimplantation genetic diagnosis of cystic fibrosis (delta F508)
3. PCR test for cystic fibrosis deletion
4. Biosensor technology and surface plasmon resonance for real-time detection of HIV-1 genomic sequences amplified by polymerase chain reaction
5. Cystic fibrosis
6. Detection of multiple cystic fibrosis mutations by reverse dot blot hybridization: A technology for carrier screening
7. Kinetic analysis of the mass transport limited interaction between the tyrosine kinase lck SH2 domain and a phosphorylated peptide studied by a new cuvette-based surface plasmon resonance instrument
8. Second-order kinetic analysis of IAsys Biosensor data: Its use and applicability
9. PNA hybridizes to complementary oligonucleotides obeying the Watson-Crick hydrogen-bonding rules
10. Detection of over 98% cystic fibrosis mutations in a Celtic population
11. Detection of the ΔF508 (F508del) mutation of the cystic fibrosis gene by surface plasmon resonance and biosensor technology
12. Identification of three novel mutations in the CFTR gene using temperature-optimized non-radioactive conditions for SSCP analysis
13. Bidirectional solid-phase sequencing of in vitro-amplified plasmid DNA
14. Basic methods for the detection of PCR products
15. Real-time biospecific interaction analysis using surface plasmon resonance and a sensor chip technology
16. Detection of PCR products in solution using surface plasmon resonance
17. Isolation of DNA-protein complexes based on streptavidin and biotin interaction
18. New approaches for the analysis of molecular recognition using the IAsys evanescent wave biosensor
19. Rapid colorimetric quantification of PCR-amplified DNA
20. Biospecific interaction analysis using biosensor technology
21. Expanded sequence dependence of thermodynamic parameters improves prediction of RNA secondary structure
22. Implementing surface plasmon resonance biosensors in drug discovery
23. Methods for analysis of multiple cystic fibrosis mutations
24. Real-time monitoring of DNA manipulations using biosensor technology
25. Detection of mutations in PCR products from clinical samples by surface plasmon resonance
26. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
27. Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs
28. Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA
29. Rapid non radioactive detection of the major cystic fibrosis mutation
30. Enzymatic amplification of β-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia
31. Application of peptide nucleic acid to the direct detection of deoxyribonucleic acid amplified by polymerase chain reaction
32. Proteins of the CNR family are multiple receptors for Reelin
33. Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease
34. Biosensors: Recent trends, a review
35. Three point mutations in the CFTR gene in French cystic fibrosis patients: Identification by denaturing gradient gel electrophoresis
36. DNA-DNA hybridization in real time using BIAcore
37. Algorithms and thermodynamics for RNA secondary structure prediction: A practical guide