Detection of the ΔF508 (F508del) mutation of the cystic fibrosis gene by surface plasmon resonance and biosensor technology

Human Mutation

Volumn 13, Issue 5, 1999, Pages 390-400

  Feriotto, Giordana ^a   Lucci, Marco ^a   Bianchi, Nicoletta ^a   Mischiati, Carlo ^a   Gambari, Roberto ^a  

^a UNIVERSITY OF FERRARA   (Italy)

Author keywords

CFTR; Cystic fibrosis; F508del, biosensors; Molecular diagnosis; Polymerase chain reaction; Real time assays; Surface plasmon resonance

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR; OLIGONUCLEOTIDE;

ARTICLE; BIOSENSOR; CYSTIC FIBROSIS; GENE DELETION; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; BIOLOGICAL MODEL; CAPILLARY ELECTROPHORESIS; COMPARATIVE STUDY; GENETIC PROCEDURES; GENETICS; INSTRUMENTATION; METHODOLOGY; MUTATION; NUCLEOTIDE SEQUENCE; SURFACE PLASMON RESONANCE; TIME;

BIOSENSING TECHNIQUES; CYSTIC FIBROSIS; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS, CAPILLARY; HUMANS; MODELS, GENETIC; MUTATION; OLIGONUCLEOTIDES; SURFACE PLASMON RESONANCE; TIME FACTORS;

EID: 0032589221     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)13:5<390::AID-HUMU8>3.0.CO;2-1     Document Type: Article

References (37)

1. Antonarakis SE, Nomenclature Working Group. 1998. Recommendations for a nomenclature system for human gene mutations. Hum Mutat 11:1-3.
2. Ao A, Ray P, Harper J, Lesko J, Paraschos T, Atkinson O, Soussis I, Taylor D, Handyside A, Hughes M, Winston RM. 1996. Clinical experience with preimplantation genetic diagnosis of cystic fibrosis (delta F508). Prenat Diagn 16:137-142.
3. Ballabio A, Gibbs RA, Caskey CT. 1990. PCR test for cystic fibrosis deletion. Nature 343:220.
4. Bianchi N, Mischiati C, Feriotto G, Gambari R. 1993. Polymerase-chain reaction: analysis of DNA/DNA hybridization by capillary electrophoresis. Nucleic Acids Res 21:3595-3596.
5. Bianchi N, Rutigliano C, Tomassetti M, Feriotto G, Zorzato F, Gambari R. 1997. Biosensor technology and SPR for real-time detection of HIV-1 genomic sequences amplified by polymerase chain reaction. Clin Diagn Virol 8:199-208.
6. Boat TF, Welsh MJ, Beadudet AL. 1989. Cystic fibrosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic basis of inherited disease. 6th ed. New York: McGraw-Hill. p 2649-2680.
7. Chehab FF, Wall J. 1992. Detection of multiple cystic fibrosis mutations by reverse dot blot hybridization: a technology for carrier screening. Hum Genet 89:163-168.
8. Chillon M, Casals T, Gimenez J, Nunes V, Estivill X. 1994. A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: description and clinical data. J Med Genet 31:369-370.
9. Ferec C, Audrezet MP, Mercier B, Guillermit H, Moullier P, Quere I, Verlingue C. 1992. detection of over 98% cystic fibrosis mutations in a Celtic population. Nature Genet 1:188-191.
10. Gasparini P, Marigo C, Bisceglia G, Nicolis E, Zelante L, Bombieri C, Borgo G, Pignatti PF, Cabrini G. 1993. Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypes. Hum Mutat 2:389-394.
11. Gordon MJ, Huang X, Pentoney SL, Zare RN. 1988. Capillary electrophoresis. Science 242:224-228.
12. Grade K, Grunewald I, Graupner I, Beherens F, Coutelle C. 1994. Identification of three novel mutations in the CFTR gene using temperature-optimized non-radioactive conditions for SSCP analysis. Hum Genet 94:154-158.
13. Jenkins FJ. 1994. Basic methods for the detection of PCR products. PCR Methods Applications 3:252-255.
14. Johnsson U, Fagerstam L, Ivarsson B, Johnsson B, Karlsson R. 1991. Real-time biospecific interaction analysis using surface plasmon resonance and a sensor chip technology. BioTechniques 11:620-627.
15. Karlsson R, Stahlberg R. 1995. Surface Plasmon Resonance detection and multispot sensing for direct monitoring of interactions involving low-molecular-weight analytes and for determination of low affinities. Anal Biochem 228:274-280.
16. Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui LC. 1989. Identification of the cystic fibrosis gene: genetic analysis. Science 245:1073-1080.
17. Kerem B, Zielenski J, Markiewicz D, Bozon D, Gazit E, Yahav J, Kennedy D, et al. 1990. Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc Natl Acad Sci USA 87:8447-8451.
18. lannuzzi MC, Stern RC, Collins FS, Tom Hon C, Hidaka N, Strong T, Becker L, et al. 1991. Two frameshift mutations in the cystic fibrosis gene. Am J Hum Genet 48:227-231.
19. Ivaschenko TE, White MB, Dean M, Baranov VS. 1991. A deletion of two nucleotides in exon 10 of the CFTR gene in a Soviet family with cystic fibrosis causing early infant death. Genomics 10:298-299.
20. Lundemberg J, Wahlberg J, Uhlén M. 1991. Rapid colorimetric quantification of PCR-amplified DNA. BioTechniques 10:68-75.
21. Malmqvist M. 1993. Biospecific interactions analysis using biosensor technology. Nature 361:186-187.
22. Mischiati C, Fiorentino D, Feriotto G, Gambari R. 1993. Use of an automated laboratory workstation for isolation of genomic DNA suitable for polymerase chain reaction and allele-specific hybridization. BioTechniques 15:146-151.
23. Ng YS, Pace R, Richard MV, Kobayashi K, Kerem B, Tsui L-C, Beaudet AL. 1991. Methods for analysis of multiple cystic fibrosis mutations. Hum Genet 87:613-617.
24. Nilsson R Persson B, Uhlén M, Nygren P-A. 1995. Real-time monitoring of DNA manipulations using biosensor technology. Anal Biochem 224:400-408.
25. Nilsson P, Persson B, Larsson A, Uhlen M, Nygren P-A. 1997. Detection of mutations in PCR products from clinical samples by surface plasmon resonance. J Mol Recognit 10:7-17.
26. Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T. 1989. Dtection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 86:2766-2770.
27. Rees DC, Cox M, Clegg JB. 1996. Detection of the Factor V Leiden mutation using whole blood PCR. Thromb Haemost 75:520-526.
28. Richards B, Skoletsky J, Shuber AP, Balfour R, Stern RC, Dorkin HL, Parad RB, Witt D, Klinger KW. 1993. Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs. Hum Mol Genet 2:159-163.
29. Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL, Drumm ML, lannuzzi MC, Collins FS, Tsui LC. 1989. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245:1066-1073.
30. Rommens JM, Kerem B, Greer W, Chang P, Tsui L-C, Ray P. 1990. Rapid non radioactive detection of the major cystic fibrosis mutation. Am J Hum Genet 46:395-396.
31. Saiki RK, Scharf S, Faloona F, Mullis KB, Horn GT, Erlich HA, Arnhein N. 1985. Enzymatic amplification of β-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science 230:1350-1354.
32. Sangiuolo F, Lo Cicero S, Maceratesi P, Quattrucci S, Novelli G, Dallapiccola B. 1993. Molecular characterization of a frameshift mutation in exon 19 of the CFTR gene. Hum Mutat 2:422-424.
33. Shoshani T, Augarten A, Gazit E, Bashan N, Yahav Y, Rivlin Y, Tal A, Seret H, Yaar L, Kerem E, Kerem BS. 1992. Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish Cystic Fibrosis patients in Israel, with presentation of severe disease. Am J Hum Genet 50:222-228.
34. Vadgama P, Crump PW. 1992. Biosensors: recent trends, a review. Analyst 117:1657-1670.
35. White MB, Amos J, Hsu JM, Gerrard B, Finn P, Dean M. 1990. A frame-shift mutation in the cystic fibrosis gene. Nature 344:665-667.
36. Wittwer CT, Fillmore GC, Garling DJ. 1991. Rapid cycle DNA amplification: time and temperature optimization. BioTechniques 10:76-83.
37. Wood SJ. 1993. DNA-DNA hybridization in real time using BIAcore. Microchem J 47:330-337.