Single nucleotide polymorphism and mutation identification by microelectronic chip technology

Minerva Biotecnologica

Volumn 14, Issue 3-4, 2002, Pages 241-246

  Stenirri, Stefania ^a   Foglieni, B ^a   Manitto, M P ^a   Martina, E ^a   Brancato, R ^a   Cremonesi, L ^a   Ferrari, M ^a,b  

^a SAN RAFFAELE HOSPITAL   (Italy)

^b Diagnostica e Ricerca San Raffaele   (Italy)

Author keywords

Mutation; Oligonucleotide array sequence analysis; Polymorphism, single nucleotide; Retina specific ABC transporter gene

Indexed keywords

ABC TRANSPORTER;

ALLELE; ANALYTIC METHOD; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DNA HYBRIDIZATION; DNA MICROARRAY; DNA PROBE; GENE TECHNOLOGY; GENETIC VARIABILITY; HUMAN; HUMAN CELL; INDIVIDUALIZATION; INTERMETHOD COMPARISON; MUTATIONAL ANALYSIS; RETINA; RETROSPECTIVE STUDY; SINGLE NUCLEOTIDE POLYMORPHISM; STARGARDT DISEASE; TISSUE SPECIFICITY; VALIDATION PROCESS; WILD TYPE;

EID: 0036972918     PISSN: 11204826     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (21)

1. Brookes AJ. The essence of SNPs. Gene 1999;234:177-86.
2. Schafer AJ, Hawkins JR. DNA variation and the future of human genetics. Nat Biotech 1998;16:33-9.
3. Gray IC, Campbell DA, Spurr NK. Single nucleotide polymorphisms as tools in human genetics. Hum Mol Genet 2000;9: 2403-8.
4. Schork NJ, Fallin D, Lanchbury JS. Single nucleotide polymorphisms and the future of genetic epidemiology. Clin Genet 2000;58:250-64.
5. Newton CR, Graham A, Heptinstall LE, Powell SJ, Summers C, Kalsheker N et al. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res 1989;17:2503-16.
6. Haliassos A, Chomel JC, Tesson L, Baudis M, Kruh J, Kaplan JC et al. Modification of enzymatically amplified DNA for the detection of point mutations, Nucleic Acids Res 1989;17:3606.
7. Kristensen VN, Kelefiotis D, Kristensen T, Borresen-dale AL. High-throughput methods for detection of genetic variation. Biotechniques 2001;30:318-32.
8. Ramsay G. DNA chips: state-of-the art. Nature Biotech 1998;16: 40-4.
9. Marshall A, Hodgson J. DNA chips: an array of possibilities. Nat Biotech 1998;16:27-31.
10. Cheung VG, Morley M, Aguilar F, Massimi A, Kucherlapati R, Childs G. Making and reading microarrays. Nature Genetics Suppl 1999;21:15-9.
11. Clarke PA, te Poele R, Wooster R, Workman P. Gene expression microarray analysis in cancer biology, pharmacology, and drug development: progress and potential. Biochem Pharmacol 2001;62:1311-36.
12. Sosnowski RG, Tu E, Butler WF, O'Connell JP, Heller MJ. Rapid determination of single base mismatch mutations in DNA hybrids by direct electric field control. Proc Natl Acad Sci USA 1997;94: 1119-23.
13. Edman CF, Raymond DE, Wu DJ, Tu E, Sosnowski RG, Butler WF et al. Electric field directed nucleic acid hybridization on microchips. Nucleic Acids Res 1997;25:4907-14.
14. Gilles PN, Wu DJ, Foster CB, Dillon PJ, Chanock SJ. Single nucleotide polymorphic discrimination by an electronic dot blot assay on semiconductor microchips. Nat Biotech 1999;17:365-70.
15. Heller MJ, Forster AH, Tu E. Active microelectronic chip devices which utilize controlled electrophoretic fields for multiplex DNA hybridization and other genomic applications. Electrophoresis 2000;21:157-64.
16. Fumagalli A, Ferrari M, Soriani N, Gessi A, Foglieni B, Martina E et al. Mutational scanning of the ABCR gene with double-gradient denaturant gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients. Hum Genet 2001;109:326-38.
17. Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, Bernstein PS et al. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 1997;277:1805-7.
18. Rozet J-M, Gerber S, Souied E, Perrault I, Chatelin S, Ghazi I et al. Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. Eur J Hum Genet 1998; 6:291-5.
19. Lewis RA, Shroyer NF, Singh N, Allikmets R, Hutchinson A, Li Y et al. Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. Am J Hum Genet 1999;64:422-34.
20. Souied EH, Ducroq D, Gerber S, Ghazi I, Rozet J-M, Perrault I et al. Age-related macular degeneration in grandparents of patients with Stargardt disease: genetic study. Am J Ophthalmol 1999;128: 173-8.
21. Papaioannou M, Ocaka L, Bessant D, Lois N, Bird A, Payne A et al. An analysis of ABCR mutations in British patients with recessive retinal dystrophies. Invest Ophthalmol Vis Sci 2000;41:16-9.