Genotyping β-globin gene mutations on copolymer-coated glass slides with the ligation detection reaction

Clinical Chemistry

Volumn 54, Issue 10, 2008, Pages 1657-1663

  Battistella, Stefania ^a   Damin, Francesco ^b   Chiari, Marcella ^b   Delgrosso, Kathleen ^c   Surrey, Saul ^c   Fortina, Paolo ^d,e   Ferrari, Maurizio ^a,f,g   Cremonesi, Laura ^a  

^a SAN RAFFAELE HOSPITAL   (Italy)

^b CNR   (Italy)

^c THOMAS JEFFERSON UNIVERSITY HOSPITAL   (United States)

^d THOMAS JEFFERSON UNIVERSITY   (United States)

^e SAPIENZA UNIVERSITY OF ROME   (Italy)

^f Diagnostica and Ricerca San Raffaele   (Italy)

^g VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

3 (TRIMETHOXYSILYL)PROPYL METHACRYLIC ACID; BETA GLOBIN; COPOLYMER; GENOMIC DNA; HEMOGLOBIN; METHACRYLIC ACID DERIVATIVE; N,N ACRYLOYLOXYSUCCINIMIDE; N,N DIMETHYLACETAMIDE; SUCCINIMIDE DERIVATIVE; UNCLASSIFIED DRUG; GLOBIN; PRIMER DNA;

ALLELE; ARTICLE; BETA THALASSEMIA; DNA SEQUENCE; DNA TEMPLATE; FLUORESCENCE; GENE MUTATION; GENOTYPE; LIGATION DETECTION REACTION; MUTANT; POLYMERASE CHAIN REACTION; TECHNIQUE; WILD TYPE; DNA MICROARRAY; GENETICS; HUMAN; MUTATION; NUCLEIC ACID HYBRIDIZATION; NUCLEOTIDE SEQUENCE;

BASE SEQUENCE; DNA PRIMERS; GENOTYPE; GLOBINS; HUMANS; MUTATION; NUCLEIC ACID HYBRIDIZATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS;

EID: 54049111897     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2008.107870     Document Type: Article

References (18)

1. Syvanen AC, Taylor GR. Approaches for analyzing human mutations and nucleotide sequence variation: a report from the Seventh International Mutation Detection meeting, 2003. Hum Mutat 2004;23:401-5.
2. Old JM, Varawalla NY, Weatherall DJ. Rapid detection and prenatal diagnosis of betathalassaemia: studies in Indian and Cypriot populations in the UK. Lancet 1990;336:834-7.
3. Kazazian HH. Use of PCR in the diagnosis of monogenic disease. In: Erlich HA, ed. PCR technology: principles and application for DNA amplification. New York: Stockton Press, 1989: 153-69.
4. Losekoot M, Fodde R, Harteveld CL, van Heeren H, Giordano PC, Bernini LF. Denaturing gradient gel electrophoresis and direct sequencing of PCR amplified genomic DNA: a rapid and reliable diagnostic approach to beta thalassaemia. Br J Haematol 1990;76:269-74.
5. Ronaghi M, Karamohamed S, Pettersson B, Uhlen M, Nyren P. Real-time DNA sequencing using detection of pyrophosphate release. Anal Biochem 1996;242:84-9.
6. Galbiati S, Foglieni B, Travi M, Curcio C, Restagno G, Sbaiz L, et al. Peptide-nucleic acid-mediated enriched polymerase chain reaction as a key point for non-invasive prenatal diagnosis of beta-thalassemia. Haematologica 2008;93:610-4.
7. Cremonesi L, Ferrari M, Giordano PC, Harteveld CL, Kleanthous M, Papasavva T, et al. An overview of current microarray-based human globin gene mutation detection methods. Hemoglobin 2007;31:289-311.
8. Cao A, Gossens M, Pirastu M. Beta thalassaemia mutations in Mediterranean populations. Br J Haematol 1989;71:309-12.
9. Landegren U, Kaiser R, Sanders J, Hood L. A ligase-mediated gene detection technique. Science 1988;241:1077-80.
10. Barany F. Genetic disease detection and DNA amplification using cloned thermostable ligase. Proc Natl Acad Sci U S A 1991;88:189-93.
11. Cao W. Recent developments in ligase-mediated amplification and detection. Trends Biotechnol 2004;22:38-44.
12. Pirri G, Damin F, Chiari M, Bontempi E, Depero LE. Characterization of a polymeric adsorbed coating for DNA microarray glass slides. Anal Chem 2004;76:1352-8.
13. Timofeev E, Kochetkova SV, Mirzabekov AD, Florentiev VL. Regioselective immobilization of short oligonucleotides to acrylic copolymer gels. Nucleic Acids Res 1996;24:3142-8.
14. Rehman FN, Audeh M, Abrams ES, Hammond PW, Kenney M, Boles TC. Immobilization of acrylamide-modified oligonucleotides by co-polymerization. Nucleic Acids Res 1999;27:649 -55.
15. Cretich M, Pirri G, Damin F, Solinas I, Chiari M. A new polymeric coating for protein microarrays. Anal Biochem 2004;332:67-74.
16. Borodina TA, Lehrach H, Soldatov AV. Ligation detection reaction-TaqMan procedure for single nucleotide polymorphism detection on genomic DNA. Anal Biochem 2004;333:309-19.
17. Gerry NP, Witowski NE, Day J, Hammer RP, Barany G, Barany F. Universal DNA microarray method for multiplex detection of low abundance point mutations. J Mol Biol 1999;292:251- 62.
18. Foglieni B, Cremonesi L, Travi M, Ravani A, Giambona A, Rosatelli MC, et al. Beta-thalassemia microelectronic chip: a fast and accurate method for mutation detection. Clin Chem 2004;50: 73-9.