Arrayed primer extension: A robust and reliable genotyping platform for the diagnosis of single gene disorders: β-thaalassemia and thiopurine methyltransferase deficiency

Genetic Testing

Volumn 9, Issue 3, 2005, Pages 212-219

  Lu, Yi ^a   Kham, Shirley Kow Yin ^a   Tan, Poh Lin ^b   Quah, Thuan Chong ^a   Heng, Chew Kiat ^a   Yeoh, Allen Eng Juh ^a  

^a NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^b NATIONAL UNIVERSITY HOSPITAL   (Singapore)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLOBIN; DNA; THIOPURINE METHYLTRANSFERASE;

ACCURACY; ARRAYED PRIMER EXTENSION; ARTICLE; BETA THALASSEMIA; CHILD; CONTROLLED STUDY; COST EFFECTIVENESS ANALYSIS; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DNA DETERMINATION; DNA MICROARRAY; ENZYME DEFICIENCY; GENETIC SCREENING; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; QUANTITATIVE ANALYSIS; SIGNAL NOISE RATIO; THIOPURINE METHYLTRANSFERASE DEFICIENCY; VALIDATION PROCESS;

BASE SEQUENCE; BETA-THALASSEMIA; DNA PRIMERS; FLUORESCENCE; GENETIC DISEASES, INBORN; HUMANS; METHYLTRANSFERASES; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMERASE CHAIN REACTION; REPRODUCIBILITY OF RESULTS;

EID: 27144538846     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2005.9.212     Document Type: Article

References (10)

1. Diehl F, Grahlmann S, Beier M, et al. Manufacturing DNA microarrays of high spot homogeneity and reduced background signal. Nucleic Acids Res, 29:e38, 2001.
2. Evans WE. Pharmacogenetics of thiopurine S-methyltransferase and thiopurine therapy. Ther Drug Monit, 26:186-191, 2004.
3. Guo Z, Guilfoyle RA, Thiel AJ, et al. Direct fluorescence analysis of genetic polymorphisms by hybridization with oligonucleotide arrays on glass supports. Nucleic Acids Res, 22:5456-5465, 1994.
4. Lindroos K, Liljedahl U, Raitio M, et al. Minisequencing on oligonucleotide microarrays: comparison of immobilization chemistries. Nucleic Acids Res, 29:e69, 2001.
5. Olivieri NF. The beta-thalassemias. N Engl J Med, 341:99-109, 1999.
6. Otterness DM, Szumlanski CL, Wood TC, et al. Human thiopurine methyltransferase pharmacogenetics. Kindred with a terminal exon splice junction mutation that results in loss of activity. J Clin Invest, 101:1036-1044, 1998.
7. Shi MM. Enabling large-scale pharmacogenetic studies by high-throughput mutation detection and genotyping technologies. Clin Chem, 47:164-172, 2001.
8. Syvanen AC. Accessing genetic variation: Genoyping single nucleotide polymorphisms. Nat Rev Genet, 2:930-942, 2001.
9. Weatherall DL, Clegg JB. Thalassemia: A global public health problem. Nat Med, 2:847-849, 1996.
10. Zammatteo N, Jeanmart L, Hamels S, et al. Comparison between different strategies of covalent attachment of DNA to glass surfaces to build DNA microarrays. Anal Biochem, 280:143-150, 2000.