Microsphere bead arrays and sequence validation of 5/7/9T genotypes for multiplex screening of cystic fibrosis polymorphisms

Journal of Molecular Diagnostics

Volumn 6, Issue 4, 2004, Pages 348-355

  Hadd, Andrew G ^a   Laosinchai Wolf, Walairat ^a   Novak, Chris R ^a   Badgett, Marty R ^a   Isgur, Lesley A ^a   Goldrick, Marianna ^a   WalkerPeach, Cindy R ^a  

^a APPLIED BIOSYSTEMS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MICROSPHERE; OLIGONUCLEOTIDE;

ALLELE; ARTICLE; CONTROLLED STUDY; CYSTIC FIBROSIS; DNA DETERMINATION; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN EXPERIMENT; INTRON; POLYMERASE CHAIN REACTION; PROCESS OPTIMIZATION; PROTEIN MICROARRAY; QUALITY CONTROL; SEQUENCE ANALYSIS; SIGNAL DETECTION; VALIDATION PROCESS;

EID: 8744273972     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1525-1578(10)60531-4     Document Type: Article

References (27)

1. Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 2001, 3:149-154
2. Richards CS, Bradley LA, Amos J, Allitto B, Grody WW, Maddalena A, McGinnis MJ, Prior TW, Popovich BW, Watson MS, Palomaki GE: Standards and guidelines for CFTR mutation testing. Genet Med 2002, 4:379-391
3. Mickle JE, Cutting GR: Genotype-phenotype relationships in cystic fibrosis. Med Clin North Am 2000, 84:597-607
4. Parad RB, Gerard CJ, Zurakowski D, Nichols DP, Pier GB: Pulmonary outcome in cystic fibrosis is influenced primarily by mucoid Pseudomonas aeruginosa infection and immune status and only modestly by genotype. Infect Immun 1999, 67:4744-4750
5. Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL, Drumm ML, Iannuzzi MC, Collins FS, Tsui LC: Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989, 245: 1066-1073
6. Farrell PM, Kosorok MR, Rock MJ, Laxova A, Zeng L, Lai HC, Hoffman G, Laessig RH, Splaingard ML: Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth: Wisconsin Cystic Fibrosis Neonatal Screening Study Group. Pediatrics 2001, 107:1-13
7. Kiesewetter S, Macek Jr M, Davis C, Curristin SM, Chu CS, Graham C, Shrimpton AE, Cashman SM, Tsui LC, Mickle J, Amos J, Highsmith WE, Shuber A, Witt DR, Crystal RG, Cutting GR: A mutation in CFTR produces different phenotypes depending on chromosomal background. Nat Genet 1993, 5:274-278
8. Chillon M, Casals T, Mercier B, Bassas L, Lissens W, Silber S, Romey MC, Ruiz-Romero J, Verlingue C, Claustres M: Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 1995, 332:1475-1480
9. Check W: CF carrier screening: making it meaningful. CAP Today 2003, 17:1; 34-41
10. Wall J, Cai S, Chehab FF: A 31-mutation assay for cystic fibrosis testing in the clinical molecular diagnostics laboratory. Hum Mutat 1995, 5:333-338
11. Strom CM, Huang D, Buller A, Redman J, Crossley B, Anderson B, Entwistle T, Sun W: Cystic fibrosis screening using the college panel: platform comparison and lessons learned from the first 20,000 samples. Genet Med 2003, 4:289-296
12. Armstrong B, Stewart M, Mazumder A: Suspension arrays for high-throughput, multiplexed single nucleotide polymorphism genotyping. Cytometry 2000, 40:102-108
13. Chen J, Iannone MA, Li MS, Taylor JD, Rivers P, Nelsen AJ, Slentz-Kesler KA, Roses A, Weiner MP: A microsphere-based assay for multiplexed single nucleotide polymorphism: analysis using single base chain extension. Genome Res 2000, 10:549-557
14. Dunbar SA, Jacobson JW: Application of the Luminex LabMAP in rapid screening for mutations in the cystic fibrosis transmembrane conductance regulator gene: a pilot study. Clin Chem 2000, 46: 1498-1500
15. Dunbar SA, Vander Zee CA, Oliver KG, Karem KL, Jacobson JW: Quantitative, multiplexed detection of bacterial pathogens: DNA and protein applications of the Luminex LabMAP system. J Microbiol Methods 2003, 53:245-252
16. Ye F, Li MS, Taylor JD, Nguyen Q, Colton HM, Casey WM, Wagner M, Weiner MP, Chen J: Fluorescent micros phere-based readout technology for multiplexed human single nucleotide polymorphism analysis and bacterial identification. Hum Mutat 2001, 17:305-316
17. Yang L, Tran DK, Wang X: BADGE, Beads Array for the Detection of Gene Expression, a high-throughput diagnostic bioassay. Genome Res 2001, 11:1888-1898
18. Fulton RJ, McDade RL, Smith PL, Kienker LJ, Kettman Jr JR: Advanced multiplexed analysis with the FlowMetrix system. Clin Chem 1997, 43:1749-1756
19. Grody W: Quest for controls in molecular genetics. J Mol Diagn 2003, 5:209-211
20. Coriell Institute for Medical Research, http://locus.umdnj.edu/nigms/charmut/cysfib.html
21. Sebastian S, Spitzer SG, Grosso LE, Amos J, Schaefer FV, Lyon E, Wolff DJ, Hajianpour A, Taylor AK, Millson A, Stenzel TT: Multi-center characterization and validation of the intron-8 poly(T) tract (IVS8-T) status in 25 Coriell cell repository cystic fibrosis reference cell lines for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation assays. Clin Chem 2004, 50:251-4
22. Dubois DB, Brown JT: Laboratory Controls and Standards in Molecular Microbiology: Diagnostic Principles and Practices. Edited by Persing DH, Tenover FC, Versalovic J, Tang YW, Unger ER, Relman DA, White TJ. Herndon VA, ASM Press, 2004, pp 697-703
23. Tsourkas A, Behlke MA, Rose SD, Bao G: Hybridization kinetics and thermodynamics of molecular beacons. Nucleic Acids Res 2003, 31:1319-1330
24. Strom CM, Huang D, Chen C, Buller A, Peng M, Quan F, Redman J, Sun W: Extensive sequencing of the cystic fibrosis transmembrane regulator gene: assay validation and unexpected benefits of developing a comprehensive test. Genet Med 2003, 5:9-14
25. Groman JD, Hefferon TW, Casals T, Bassas L, Estivill X, Des Georges M, Guittard C, Koudova M, Fallin MD, Nemeth K, Fekete G, Kadasi L, Friedman K, Schwarz M, Bombieri C, Pignatti PF, Kanavakis E, Tzetis M, Schwartz M, Novelli G, D'Apice MR, Sobczynska-Tomaszewska A, Bal J, Stuhrmann M, Macek Jr M, Claustres M, Cutting GR: Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. Am J Hum Genet, 2004, 74, 176-179
26. Ambion Diagnostics, http://www.ambiondx.com/resources/cf/
27. Longo MC, Berninger MS, Hartley JL: Use of uracil DNA glycosylase to control carry-over contamination in polymerase chain reactions. Gene 1990, 93:125-128