Application of SNaPshot for analysis of thiopurine methyltransferase gene polymorphism

Indian Journal of Medical Research

Volumn 129, Issue 5, 2009, Pages 500-505

  Kapoor, Gauri ^a,b   Maitra, Arindam ^c,d   Somlata, ^a   Brahmachari, Vani ^a  

^a UNIVERSITY OF DELHI   (India)

^b RAJIV GANDHI CANCER INSTITUTE AND RESEARCH CENTRE   (India)

^c Institute of Molecular Medicine   (India)

^d THROMBOSIS RESEARCH INSTITUTE   (India)

Author keywords

ALL; Indian population; Polymorphism; SNaPshot; TPMT

Indexed keywords

ALANINE; COMPLEMENTARY DNA; CYSTEINE; GENOMIC DNA; GLYCINE; THIOPURINE METHYLTRANSFERASE;

ACUTE LYMPHOBLASTIC LEUKEMIA; ARTICLE; CATALYSIS; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; DNA SEQUENCE; ENZYME ACTIVITY; GENE FREQUENCY; GENE IDENTIFICATION; GENE TRANSLOCATION; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOSITY; HIGH THROUGHPUT SCREENING; HUMAN; INDIAN; PHARMACOGENETICS; RELIABILITY; SINGLE NUCLEOTIDE POLYMORPHISM; WILD TYPE;

BASE SEQUENCE; DNA PRIMERS; DNA, COMPLEMENTARY; GENETIC MARKERS; GENETICS, POPULATION; GENOTYPE; HUMANS; INDIA; INDIVIDUALIZED MEDICINE; METHYLTRANSFERASES; MOLECULAR SEQUENCE DATA; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PHARMACOGENETICS; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PRECURSOR CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA;

EID: 70349100893     PISSN: 09715916     EISSN: 09715916     Source Type: Journal    
DOI: None     Document Type: Article

References (28)

1. Krynetski EY, Tai HL, Yates CR, Fessing MY, Loennechen T, Schuetz JD, et al. Genetic polymorphism of thiopurine S-methyltransferase: clinical importance and molecular mechanisms. Pharmacogenetics 1996; 6: 279-90.
2. Lennard L, Lilleyman JS, Van Loon J, Weinshilboum RM. Genetic variation in response to 6-mercaptopurine for childhood acute lymphoblastic leukaemia. Lancet 1990; 336: 225-9.
3. Johnson PJ, McFarlane IG, Williams R. Azathioprine for long-term maintenance of remission in autoimmune hepatitis. N Engl J Med 1995; 333: 958-63.
4. Schutz E, Gummert J, Mohr F, Oellerich M. Azathioprine-induced myelosuppression in thiopurine methyltransferase deficient heart transplant recipient. Lancet 1993; 341: 436.
5. Hollander AA, van Saase JL, Kootte AM, van Dorp WT, van Bockel HJ, van Es LA, et al. Beneficial effects of conversion from cyclosporin to azathioprine after kidney transplantation. Lancet 1995; 345: 610-4.
6. Weinshilboum RM, Sladek SL. Mercaptopurine pharmacogenetics: monogenic inheritance of erythrocyte thiopurine methyltransferase activity. Am J Hum Genet 1980; 32: 651-62.
7. Leipold G, Schutz E, Haas JP, Oellerich M. Azathioprine-induced severe pancytopenia due to a homozygous two-point mutation of the thiopurine methyltransferase gene in a patient with juvenile HLA-B27-associated spondyloarthritis. Arthritis Rheum 1997; 40: 1896-8.
8. Lennard L, Gibson BE, Nicole T, Lilleyman JS. Congenital thiopurine methyltransferase defi ciency and 6-mercaptopurine toxicity during treatment for acute lymphoblastic leukaemia. Arch Dis Child 1993; 69: 577-9.
9. McLeod HL, Krynetski EY, Relling MV, Evans WE. Genetic polymorphism of thiopurine methyltransferase and its clinical relevance for childhood acute lymphoblastic leukemia. Leukemia 2000; 14: 567-72.
10. Evans WE, Horner M, Chu YQ, Kalwinsky D, Roberts WM. Altered mercaptopurine metabolism, toxic effects, and dosage requirement in a thiopurine methyltransferase-deficient child with acute lymphocytic leukemia. J Pediatr 1991; 119: 985-9.
11. Leonard L, Lilleyman JS, Van Loon J, Weinshilboum RM. Genetic variation in response to 6 mercaptopurine for childhood acute lymphoblastic leukemia. Lancet 1990; 336: 225-9.
12. Ameyaw MM, Collie-Duguid ESR, Powrie RH, Ofori-Adjei D, McLeod HL. Thiopurine methyltransferase alleles in British and Ghanaian populations. Hum Mol Genet 1999; 8: 367-70.
13. Yates CR, Krynetski EY, Loennechen T, Fessing MY, Tai HL, Pui CH, et al. Molecular diagnosis of thiopurine S-methyltransferase deficiency: genetic basis for azathioprine and mercaptopurine intolerance. Ann Intern Med 1997; 126: 608-14.
14. Salavaggione OE, Wang L, Wiepert M, Yee VC, Weinshilboum RM. Thiopurine S-methyltransferase pharmacogenetics: variant allele functional and comparative genomics. Pharmacogenet Genomics 2005; 15: 801-15.
15. Collie-Duguid ESR, Pritchard SC, Powrie RH, Sludden J, Collier DA, Li T, et al. The frequency and distribution of thiopurine methyltransferase alleles in Caucasian and Asian populations. Pharmacogenetics 1999; 9: 37-42.
16. Kham SK, Tan PL, Tay AH, Heng CK, Yeoh AE, Quah TC. Thiopurine methyltransferase polymorphisms in a multiracial Asian population and children with acute lymphoblastic leukemia. J Pediatr Hematol Oncol 2002; 24: 353-9.
17. Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 1977; 74: 5463-7.
18. Norton N, Williams NM, Williams HJ, Spurlock G, Kirov G, Morris DW, et al. Universal, robust, highly quantitative SNP allele frequency measurement in DNA pools. Hum Genet 2002; 110: 471-8.
19. Le Hellard S, Ballereau SJ, Visscher PM, Torrance HS, Pinson J, Morris SW, et al. SNP genotyping on pooled DNAs: comparison of genotyping technologies and a semi automated method for data storage and analysis. Nucleic Acids Res 2002; 30: e74.
20. Sistonen J, Fuselli S, Levo A, Sajantila A. CYP2D6 genotyping by a multiplex primer extension reaction. Clin Chem 2005; 51: 1291-5.
21. Zuker M. Mfold web server for nucleic acid folding and hybridization prediction. Nucleic Acids Res 2003; 31: 3406-15.
22. Seidman EG, Furst DE. Pharmacogenetics for the individualization of treatment of rheumatic disorders using azathioprine. J Rheumatol 2002; 29: 2484-7.
23. Relling MV, Hancock ML, Boyett JM, Pui CH, Evans WE. Prognostic importance of 6-mercaptopurine dose intensity in acute lymphoblastic leukemia. Blood 1999; 93: 2817-23.
24. McLeod HL, Pritchard SC, Githang'a J, Indalo A, Ameyaw MM, Powrie RH, et al. Ethnic differences in thiopurine methyltransferase pharmacogenetics: evidence for allele specificity in Caucasian and Kenyan subjects. Pharmacogenetics 1999; 9: 773-6.
25. Relling MV, Hancock ML, Rivera GK, Sandlund JT, Ribeiro RC, Krynetski EY, et al. Mercaptopurine therapy intolerance and heterozygosity at the thiopurine S-methyltransferase gene locus. J Natl Cancer Inst 1999; 91: 2001-8.
26. Kumagai K, Hiyama K, Ishioka S, Sato H, Yamanishi Y, McLeod HL, et al. Allelotype frequency of the thiopurine methyltransferase (TPMT) gene in Japanese. Pharmacogenetics 2001; 11: 275-8.
27. Hongeng S, Sasanakul W, Chuansumrit A, Pakakasama S, Chattananon A, Hathirat P. Frequency of thiopurine S-methyltransferase genetic variation in Thai children with acute leukemia. Med Pediatr Oncol 2000; 35: 410-4.
28. Somrudee S, Wongwiwat T, Veerapol K, Wichittra T. Thiopurine. S-methyltransferase genetic polymorphism in the Thai population. Br J Clin Pharmacol 2004; 58: 66-70.