Detection of known and new mutations in the thiopurine S- methyltransferase gene by single-strand conformation polymorphism analysis

Human Mutation

Volumn 12, Issue 3, 1998, Pages 177-185

  De La Moureyre, Catherine Spire Vayron ^a   Debuysère, Hervé ^a   Sabbagh, Nadda ^a   Marez, Delphine ^a   Vinner, Elizabeth ^a   Chevalier, Emmanuel Dany ^a   Lo Guidice, Jean Marc ^a   Broly, Franck ^a  

^a LILLE UNIVERSITY HOSPITAL   (France)

Author keywords

Genetic polymorphism; Mutation detection; Single strand conformation polymorphism (SSCP) analysis; Thiopurine S methyltransferase (TPMT)

Indexed keywords

THIOPURINE METHYLTRANSFERASE;

ALLELE; ARTICLE; CLINICAL ARTICLE; DNA DETERMINATION; DNA METHYLATION; DNA POLYMORPHISM; GENE AMPLIFICATION; GENE LOCUS; GENE MUTATION; HUMAN; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

ALLELES; GENOTYPE; HUMANS; METHYLTRANSFERASES; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0031880735     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)12:3<177::AID-HUMU5>3.0.CO;2-E     Document Type: Article

References (34)

1. Condie A, Eeles R, Borreson AL, Coles C, Cooper C, Prosser J (1993) Detection of point mutations in the p53 gene: Comparison of single-strand conformation polymorphism, constant denaturant gel electrophoresis, and hydroxylamine and osmium tetroxide techniques Hum Mutat 2:58-66.
2. Cotton RGH (1993) Current methods of mutation detection. Mutat Res 285:125-144.
3. Evans W, Horner M, Chu YQ, Kalwinsky D, Roberts W (1991) Altered mercaptopurine metabolism, toxic effects, and dosage requirement in a thiopurine methyltransferase-deficient child with acute lymphoblastic leukemia. J Pediatr 119:985-989.
4. Giverhaug T, Klemetsdal B, Lysaa R, Aarbakke J (1996) Intraindividual variability in red blood cell thiopurine methyltransferase activity. Eur J Clin Pharmacol 50:217-220.
5. Glavac D, Dean M (1993) Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations. Hum Mutat 5:404-414.
6. Hayashi K (1991) PCR-SSCP A simple and sensitive method for detection of mutations Ln the genomic DNA. PCR Methods Appl 1:34-38.
7. Hayashi K, Wandell DW (1993) How sensitive is PCR-SSCP? Hum Mutat 5:338-346.
8. Jang IJ, Shin SG, Lee KH, Yim DS, Lee MS, Koo HH, Kim HK, Sohn DR (1996) Erythrocyte thiopurine methyltransferase activity in Korean population. Br J Pharmacol 42:638:641.
9. Klemetsdal B, Tollefsen E, Loennechen T, Johnsen K, Utsi E, Gisholt K, Wist E, Aarbakke J (1992) Interethnic difference in thiopurine methyltransferase activity. Clin Pharmacol Ther 51.24-31.
10. Krynetski E, Schuetz J, Galpin A, Pui CH, Relling M, Evans W (1995) A single point mutation leading to loss of catalytic activity in human thiopurine S-methyltransferase. Proc Natl Acad Sci USA 92:949-953.
11. Krynetski E, Tai HL, Yates C, Fessing M, Loennechen T, Schuetz J, Relling M, Evans W (1996) Genetic polymorphism of thiopurine S-methyltransferase: Clinical importance and molecular mechanisms. Pharmacogenetics 6:279-290.
12. Lee D, Szumlanski C, Houtman J, Honchel R, Rojas K, Overhauser J, Wieben E, Weinshilboum R (1995) Thiopurine methyltransferase pharmacogenetics. Cloning of human liver cDNA and a processed pseudogene on human chromosome 18q21.1. Drug Metab Dispos 23 398-405.
13. Lennard L, Van Loon J, Lilleyman JS, Weinshilboum R (1987) Thiopurine pharmacogenetics m leukemia. Correlation of erythrocyte thiopurine methyltransferase activity and 6-thioguanine nucleotide concentrations. Clin Pharmacol Ther 41:18-25.
14. Lennard L, Van Loon J, Weinshilboum R (1989) Pharmacogenetics of acute azathioprine toxicity: relationship to thiopurine methyltransferase genetic polymorphism. Clin Pharmacol Ther 46.149-154.
15. Lennard L, Lilleyman JS, Van Loon J, Weinshilboum R (1990) Genetic variation in response to 6-mercaptopurine for childhood acute lymphoblastic leukaemia. Lancet 336.225-229.
16. Lennard L, Gibson BE, Nicole T, Lilleyman JS (1993) Congenital thiopurine methyltransferase deficiency and 6-mercaptopurine toxicity during treatment for acute lymphoblastic leukaemia. Arch Dis Child 69 577-579.
17. Lysaa R, Giverhaug T, Wold HL, Aarbakke J (1996) Inhibition of human thiopurine methyltransferase by furosemide, bendroflumethiazide and trichlormethiazide. Eur J Clin Pharmacol 49:393-396.
18. McLeod H, Miller D, Evans W (1993) Azathioprine-induced myelosuppression in thiopurine methyltransferase deficient heart transplant recipient. Lancet 341:1151.
19. McLeod H, Lin JS, Scott E, Pui CH, Evans W (1994) Thiopurine methyltransferase activity in American white subjects and black subjects. Clin Pharmacol Ther 55.15-20.
20. McLeod H, Relling M, Liu Q, Pui CH, Evans W (1995) Polymorphic thiopurine methyltransferase in erythrocytes is indicative of activity in leukemia blasts from children with acute lymphoblastic leukemia. Blood 85:1897-1902.
21. Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T (1989) Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 86:2766-2770.
22. Otterness D, Szumlanski C, Weinshilboum R (1996) Human thiopurine methyltransferase pharmacogenetics: Identification of a novel variant allele (abstract). J Invest Med 44:248A.
23. Otterness D, Szumlanski C, Lennard L, Klemetsdal B, Aarbakke J, Park-Hah JO, Iven H, Schmiegelow K, Branum E, O'Brien J, Weinshilboum R (1997) Human thiopurine methyltransferase pharmacogenetics: Gene sequence polymorphisms. Clin Pharmacol Ther 62:60-73.
24. Park-Hah JO, Klemetsdal B, Lysaa R, Choi KH, Aarbakke J (1996) Thiopurine methyltransferase activity in a Korean population sample of children. Clin Pharmacol Ther 60:68-74.
25. Sambrook J, Maniatis T, Fritsh EF (1989) Molecular Cloning. A Laboratory Manual. 2nd Ed: Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press.
26. Schutz E, Gummert J, Mohr F, Oellerich M (1993) Azathioprine-induced myelosuppression in thiopurine methyltransferase deficient heart transplant recipient. Lancet 341:436.
27. Szumlanski C, Honchel R, Scott M, Weinshilboum R (1992) Human liver thiopurine methyltransferase pharmacogenetics: Biochemical properties, liver-erythrocyte correlation and presence of isozymes. Pharmacogenetics 2:148-159.
28. Szumlanski C, Otterness D, Her C, Lee D, Brandriff B, Kelsell D, Spurr N, Lennard L, Wieben E, Weinshilboum R (1996) Thiopurine methyltransferase pharmacogenetics: human gene cloning and characterization of a common polymorphism. DNA Cell Biol 15:17-30.
29. Tai HL, Krynetski E, Yates C, Loennechen T, Fessing M, Krynetskaia N, Evans W (1996) Thiopurine s-methyltransferase deficiency: two nucleotide transitions define the most prevalent mutant allele associated with loss of catalytic activity in Caucasians. Am J Hum Genet 58:694-702.
30. Van Loon J, Weinshilboum R (1982) Thiopurine methyltransferase biochemical genetics: Human lymphocyte activity. Biochem Genet 20:637-658.
31. Weinshilboum R, Raymond F, Pazmino P (1978) Human erythrocyte thiopurine methyltransferase: Radiochemical microassay and biochemical properties. Cli Chim Acta 85:323-333.
32. Weinshilboum R, Sladek S (1980) Mercaptopurine pharmacogenetics: Monogenic inheritance of erythrocyte thiopurine methyltransferase activity. Am J Hum Genet 32:651-662.
33. Woodson L, Dunnette J, Weinshilboum R (1982) Pharmacogenetics of human thiopurine methyltransferase: Kidney-erythrocyte correlation and immunotitration studies. J Pharmacol Exp Ther 222:174-181.
34. Yates C, Krynetski E, Loennechen T, Fessing M, Tai HL, Pui CH, Relling M, Evans W (1997) Molecular diagnosis of thiopurine S-methyltransferase deficiency genetic basis for azathioprine and metcaptopurine intolerance. Ann Intern Med 126:608-614