Whole-blood thiopurine S-methyltransferase activity with genotype concordance: A new, simplified phenotyping assay

Annals of Clinical Biochemistry

Volumn 43, Issue 5, 2006, Pages 354-360

  Ford, Loretta ^a   Graham, Valerie ^a   Berg, Jonathan ^a  

^a CITY HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CHLOROFORM; DNA; PHENOL; THIOPURINE S METHYLTRANSFERASE; TIOGUANINE; TRANSFERASE; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME ASSAY; FLUOROMETRY; GENE MUTATION; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HEMOLYSATE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN CELL; INTERMETHOD COMPARISON; PHENOTYPE; PRIORITY JOURNAL;

AFRICAN AMERICANS; ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; ERYTHROCYTES; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENE FREQUENCY; GENOTYPE; HUMANS; ISOENZYMES; METHYLTRANSFERASES; MUTATION; PHENOTYPE; REPRODUCIBILITY OF RESULTS; THIOGUANINE;

EID: 33749509197     PISSN: 00045632     EISSN: 00045632     Source Type: Journal    
DOI: 10.1258/000456306778520070     Document Type: Article

References (27)

1. Weinshilboum RM, Sladek SL. Mercaptopurine pharmacogenetics: monogenic inheritance of erythrocyte thiopurine methyltransferase activity. Am J Hum Genet 1980; 32: 651-62
2. Lennard L, Lilleyman JS. Individualising therapy with 6-mercaptopurine and 6-thioguanine related to the thiopurine methyltransferase genetic polymorphism. Ther Drug Monit 1996; 18: 328-34
3. Whisnat JK, Pelkey J. Rheumatoid arthritis: treatment with azathioprine (IMURAN R). Clinical side effects and laboratory abnormalities. Ann Rheum Dis 1982; 41: 44-7
4. Anstey AV, Wakelin S, Reynolds NJ. Guidelines for prescribing azathioprine in dermatology. Br J Derm 2004; 151: 1123-32
5. Ernest G, Seidman MD. Clinical use and practical application of TPMT enzyme and 6-mercaptopurine metabolite monitoring in IBD. Rev Gastroenterol Disord 2003; 3: S30-8
6. Clunie G, Lennard L. Relevance of thiopurine methyltransferase status in rheumatology patients receiving azathioprine. Rheumatology 2004; 43: 13-8
7. Sanderson J, Ansari A, Marinaki T, Duley J. Thiopurine methyltransferase: should it be measured before commencing thiopurine drug therapy? Ann Clin Biochem 2004; 41: 294-302
8. Ford L, Prout C, Gaffney D, Berg J. Whose TPMT activity is it anyway? Ann Clin Biochem. Clinical Case 2004; 41: 498-500
9. Lennard L, Lilleyman JS. Individualising therapy with 6-mercaptopurine and 6-thioguanine related to the thiopurine methyltransferase genetic polymorphism. Ther Drug Monit 1996; 18: 328-34
10. 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
11. Hindorf U, Peterson C, Almer S. Assessment of thiopurine methyltransferase and metabolite formation during thiopurine therapy. Ther Drug Monit 2004; 26: 673-8
12. Heckmann JM, Lambson EM, Little F, Owen EP. Thiopurine methyltransferase (TPMT) heterozygosity and enzyme activity as predictive tests for the development of azathioprine-related adverse events. J Neurol Sci 2005; 231: 71-80
13. Clunie G, Lennard L. Relevance of thiopurine methyltransferase status in rheumatology patients receiving azathioprine. Rheumatology 2004; 43: 13-8
14. Ford LT, Berg JD. Determination of thiopurine S-methyltransferase activity in erthrocytes using 6-thioguanine as substrate and a nonextraction liquid chromatographic technique. J Chrom B 2003; 798: 111-5
15. Kroplin T, Weyer N, Gutsche S, Iven H. Thiopurine S-methyltransferase activity in human erythrocytes: a new HPLC method using 6-thioguanine as substrate. Eur J Clin Pharmacol 1998; 54: 265-71
16. Ford LT, Cooper SC, Lewis MJV, Berg JD. Reference intervals for thiopurine S-methyltransferase activity in red blood cells using 6-thioguanine as substrate and a rapid non-extraction liquid chromatographic technique. Annal Clin Biochem 2004; 41: 303-8
17. Brouwer C, Marinaki AM, Lambooy LH, et al. Pitfalls in the determination of mutant alleles of the thiopurine methyltransferase gene. Leukemia 2001; 15: 1792-3
18. Roberts RL, Barclay ML, Gearry RB, Kennedy MA. A multiplexed allele-specific polymerase chain reaction assay for the detection of common thiopurine S-methyltransferase (TPMT) mutations. Clinica Chimica Acta 2004; 341: 49-53
19. Krynetski EY, Schuetz JD, Galpin AJ, et al. A single point mutation leading to the loss of catalytic activity in human thiopurine methyltransferase. Proc Natl Acad Sci USA 1995; 92: 949-53
20. Tai H, Krynetski EY, Schuetz JD, et al. Thiopurine S-methyltransferase deficiency: two nucleotide transitions define the most prevelant mutant allele associated with loss of catalytic activity in Caucasians. Am J Hum Genet 1996; 58: 694-702
21. Ameyaw M, Collie-Duguid ESR, Powrie RH, et al. Thiopurine methyltransferase alleles in British and Ghanaian populations. Hum Mol Genet 1999; 8: 367-70
22. Otterness D, Szumlanski C, Lennard L, et al. Human thiopurine methyltransferase pharmacogenetics: gene sequence polymorphisms. Clin Pharmacol Ther 1997; 62: 60-73
23. Schaeffeler E, Fischer C, Brockmeier D, et al. Comprehensive analysis of thiopurine S-methyltransferase phenotype-genotype correlation in a large population of German-Caucasians and identification of novel TPMT variants. Pharmacogenetics 2004; 14: 407-17
24. Haglund S, Lindqvist M, Almer S, et al. Pyrosequencing of TPMT alleles in a general Swedish population and in patients with inflammatory bowel disease. Clin Chem 2004; 50: 288-95
25. Ford L, Graham V, Berg J. Patients with high-normal TPMT activity identified during routine phenotypic testing: what is going on? Ann Clin Biochem 2006; 43(Suppl.): 44
26. Lewis LD, Benin A, Szumlunski CL, et al. Olsalizine and 6-mercaptopurine-related bone marrow suppression: a possible drug-drug interaction. Clin Pharmacol Ther 1997; 62: 464-75
27. Woodson LC, Ames MM, Selassie CD, et al. Thiopurine methyltransferase. Aromatic thiol substrates and inhibition by benzoic acid derivatives. Mol Pharmacol 1983; 24: 471-8