β-Thalassemia Microelectronic Chip: A Fast and Accurate Method for Mutation Detection

Clinical Chemistry

Volumn 50, Issue 1, 2004, Pages 73-79

  Foglieni, Barbara ^a   Cremonesi, Laura ^a   Travi, Maurizio ^b   Ravani, Anna ^c   Giambona, Antonino ^d   Rosatelli, Maria Cristina ^e   Perra, Chiara ^f   Fortina, Paolo ^g   Ferrari, Maurizio ^a,h  

^a U Genom Diagn of Hum Pathologies   (Italy)

^b Laboratorio di Informatica Medica   (Italy)

^c UNIVERSITY OF FERRARA   (Italy)

^d Azienda Ospedaliera Vincenzo C   (Italy)

^e UNIVERSITY OF CAGLIARI   (Italy)

^f Osp Regionale per le Microcitemie   (Italy)

^g THOMAS JEFFERSON UNIVERSITY   (United States)

^h Diagnostica e Ricerca San Raffaele SpA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

STREPTAVIDIN;

ACCURACY; ALLELE; AMPLICON; ANALYTIC METHOD; ARTICLE; BETA THALASSEMIA; BIOTINYLATION; CONTROLLED STUDY; DNA MICROARRAY; HUMAN; MAJOR CLINICAL STUDY; MUTATION;

BETA-THALASSEMIA; FLUOROMETRY; HUMANS; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMERASE CHAIN REACTION; REPRODUCIBILITY OF RESULTS;

EID: 1642492777     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2003.023077     Document Type: Article

References (14)

1. Weatherall DJ, Clegg JB. The biology of the thalassemias. In: The thalassemia syndromes, 4th ed. Oxford: Blackwell Science Ltd., 2001:121-284.
2. Huisman TH, Carver MF. The β- and δ-thalassemia repository (9th ed., part I). Hemoglobin 1998;22:169-95.
3. Bianco I Epidemiologia. In: Le talassemie. Un problema medicosociale: ieri e oggi. Roma: Istituto ltaliano di Medicina Sociale, 1998:163-79.
4. Santacroce R, Ratti A, Caroli F, Foglieni B, Ferraris A, Cremonesi L, et al. Methods for analysis of clinically relevant single nucleotide polymorphisms using microelectronic array technology. Clin Chem 2002;48:2124-30.
5. 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.
6. 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 U S A 1997;94:1119-23.
7. Gilles PN, Wu DJ, Foster CB, Dillon PJ, Chanock SJ. Single nucleotide polymorphic discrimination by an electronic dot blot assay on semiconductor microchips. Nat Biotechnol 1999;17:365-70.
8. 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.
9. Ristaldi MS, Piratsu M, Rosatelli MC, Cao A. Prenatal diagnosis of β-thalassemia in Mediterranean population by dot-blot analysis with DNA amplification and allele specific oligonucleotide probes. Prenat Diagn 1989;9:629-38.
10. Saiki RK, Walsh PS, Levenson CH, Elrich HA. Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes. Proc Natl Acad Sci U S A 1989;86:6230-4.
11. Tan JA, Tay JS, Lin LI, Kham SK, Chia JN, Chin TM, et al. The amplification refractory mutation system (ARMS): a rapid and direct prenatal diagnostic techniques for β-thalassemia in Singapore. Prenat Diagn 1994;14:1077-82.
12. Losekoot M, Fodde R, Harveld 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 β thalassemia. Br J Haematol 1990;76:269-74.
13. Colosimo A, Guida V, De Luca A, Cappabianca MP, Bianco I, Palka G, et al. Reliability of DHPLC in mutational screening of β-globin (HBB) alleles. Hum Mutat 2002;19:287-95.
14. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215-6.