RT-PCR permits simultaneous genotyping of thiopurine S-methyltransferase allelic variants by multiplex induced heteroduplex analysis

Human Mutation

Volumn 24, Issue 1, 2004, Pages 93-99

  Wood, Nigel A P ^a   Fraser, Adrian ^a   Bidwell, Jeffrey ^a   Standen, Graham ^b  

^a UNIVERSITY OF BRISTOL   (United Kingdom)

^b BRISTOL ROYAL INFIRMARY   (United Kingdom)

Author keywords

Genotyping; IHG; Induced heteroduplex generator; RT PCR; Sequence specific multiplex PCR; Thiopurine methyltransferase; TPMT

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA; THIOPURINE METHYLTRANSFERASE;

ALLELE; ARTICLE; CATALYSIS; DRUG METABOLISM; ENZYME ACTIVITY; EXON; GENOTYPE; HUMAN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ALLELES; DNA, COMPLEMENTARY; GENOTYPE; HEMATOLOGIC DISEASES; HETERODUPLEX ANALYSIS; HUMANS; METHYLTRANSFERASES; POINT MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA; VARIATION (GENETICS);

STAPHYLOCOCCUS PHAGE 3A;

EID: 3042702366     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20057     Document Type: Article

References (45)

1. Alves S, Prata MJ, Ferreira F, Amorim A. 2000. Screening of thiopurine S-methyltransferase mutations by horizontal conformation-sensitive gel electrophoresis. Hum Mutat 15:246-253.
2. Ameyaw MM, Collie-Duguid ES, Powrie RH, Ofori-Adjei D, McLeod HL. 1999. Thiopurine methyltransferase alleles in British and Ghanaian populations. Hum Mol Genet 8:367-370.
3. Barbaux S, Kluijtmans LA, Whitehead AS. 2000. Accurate and rapid "multiplex heteroduplexing" method for genotyping key enzymes involved in folate/homocysteine metabolism. Clin Chem 46:907-912.
4. Bolla MK, Wood N, Humphries SE. 1999. Rapid determination of apolipoprotein E genotype using a heteroduplex generator. J Lipid Res 40:2340-2345.
5. Bowen DJ, Bowley S, John M, Collins PW. 1998. Factor V Leiden (G1691A), the prothrombin 3′-untranslated region variant (G20210A) and thermolabile methylenetetrahydrofolate reductase (C677T): a single genetic test genotypes all three loci-determination of frequencies in the S. Wales population of the UK. Thromb Haemost 79:949-954.
6. Brouwer C, Marinaki AM, Lambooy LH, Duley JA, Shobowale-Bakre M, De Abreu RA. 2001. Pitfalls in the determination of mutant alleles of the thiopurine methyltransferase gene. Leukemia 15:1792-1793.
7. Chomczynski P, Sacchi N. 1987. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156-159.
8. Collie-Duguid ES, Pritchard SC, Powrie RH, Sludden J, Collier DA, Li T, McLeod HL. 1999. The frequency and distribution of thiopurine methyltransferase alleles in Caucasian and Asian populations. Pharmacogenetics 9:37-42.
9. Coulthard SA, Rabello C, Robson J, Howell C, Minto L, Middleton PG, Gandhi MK, Jackson G, McLelland J, O'Brien H, Smith S, Reid MM, Pearson AD, Hall AG. 2000. A comparison of molecular and enzyme-based assays for the detection of thiopurine methyltransferase mutations. Br J Haematol 110:599-604.
10. Hall AG, Hamilton P, Minto L, Coulthard SA. 2001. The use of denaturing high-pressure liquid chromatography for the detection of mutations in thiopurine methyltransferase. J Biochem Biophys Methods 47:65-71.
11. Hecker KH, Roux KH. 1996. High and low annealing temperatures increase both specificity and yield in touchdown and stepdown PCR. Biotechniques 20:478-485.
12. Henegariu O, Heerema NA, Dlouhy SR, Vance GH, Vogt PH. 1997. Multiplex PCR: critical parameters and step-by-step protocol. Biotechniques 23:504-511.
13. Kerstens PJ, Stolk JN, De Abreu RA, Lambooy LH, van de Putte LB, Boerbooms AA. 1995. Azathioprine-related bone marrow toxicity and low activities of purine enzymes in patients with rheumatoid arthritis. Arthritis Rheum 38:142-145.
14. Krynetski EY, Schuetz JD, Galpin AJ, Pui CH, Relling MV, Evans WE. 1995. A single point mutation leading to loss of catalytic activity in human thiopurine S-methyltransferase. Proc Natl Acad Sci USA 92:949-953.
15. Krynetski EY, Fessing MY, Yates CR, Sun D, Schuetz JD, Evans WE. 1997. Promoter and intronic sequences of the human thiopurine S-methyltransferase (TPMT) gene isolated from a human PAC1 genomic library. Pharm Res 14:1672-1678.
16. Lee D, Szumlanski C, Houtman J, Honchel R, Rojas K, Overhauser J, Wieben ED, Weinshilboum RM. 1995. Thiopurine methyltransferase pharmacogenetics. Cloning of human liver cDNA and a processed pseudogene on human chromosome 18q21.1. Drug Metab Dispos 23:398-405.
17. Lennard L, Van Loon JA, Weinshilboum RM. 1989. Pharmacogenetics of acute azathioprine toxicity: relationship to thiopurine methyltransferase genetic polymorphism. Clin Pharmacol Ther 46:149-154.
18. Lennard L, Lewis IJ, Michelagnoli M, Lilleyman JS. 1997. Thiopurine methyltransferase deficiency in childhood lymphoblastic leukaemia: 6-mercaptopurine dosage strategies. Med Pediatr Oncol 29:252-255.
19. Lennard L. 2001. Therapeutic drug monitoring of cytotoxic drugs. Br J Clin Pharmacol 52(Suppl 1):75S-87S.
20. Lennard L, Chew TS, Lilleyman JS. 2001. Human thiopurine methyltransferase activity varies with red blood cell age. Br J Clin Pharmacol 52:539-546.
21. Li LK, Humphries SE, Wood N. 2002. Simultaneous determination of apolipoprotein AIV T347S and Q360H genotypes using a heteroduplex generator. Atherosclerosis 165:385-358.
22. Marra CA, Esdaile JM, Anis AH. 2002. Practical pharmacogenetics: the cost effectiveness of screening for thiopurine S-methyltransferase polymorphisms in patients with rheumatological conditions treated with azathioprine. J Rheumatol 29:2507-2512.
23. McDonald OG, Krynetski EY, Evans WE. 2002. Molecular haplotyping of genomic DNA for multiple single-nucleotide polymorphisms located kilobases apart using long-range polymerase chain reaction and intramolecular ligation. Pharmacogenetics 12:93-99.
24. McLeod HL, Pritchard SC, Githang'a J, Indalo A, Ameyaw MM, Powrie RH, Booth L, Collie-Duguid ES. 1999. Ethnic differences in thiopurine methyltransferase pharmacogenetics: evidence for allele specificity in Caucasian and Kenyan individuals. Pharmacogenetics 9:773-776.
25. Meggitt SJ, Reynolds NJ. 2001. Azathioprine for atopic dermatitis. Clin Exp Dermatol 26:369-375.
26. Menor C, Fueyo JA, Escribano O, Cara C, Fernandez-Moreno MD, Roman ID, Guijarro LG. 2001. Determination of thiopurine methyltransferase activity in human erythrocytes by high-performance liquid chromatography: comparison with the radiochemical method. Ther Drug Monit 23:536-541.
27. 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.
28. Rossi AM, Bianchi M, Guarnieri C, Barale R, Pacifici GM. 2001. Genotype-phenotype correlation for thiopurine S-methyltransferase in healthy Italian subjects. Eur J Clin Pharmacol 57:51-54.
29. Sambrook J, Fritsch EF, Maniatis T. 1989. Molecular cloning: a laboratory manual. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press.
30. Schuler GD, Altschul SF, Lipman DJ. 1991. A workbench for multiple alignment construction and analysis. Proteins 9:180-190.
31. Schutz E, von Ahsen N, Oellerich M. 2000. Genotyping of eight thiopurine methyltransferase mutations: three-color multiplexing, "two-color/ shared" anchor, and fluorescence-quenching hybridization probe assays based on thermodynamic nearest-neighbor probe design. Clin Chem 46:1728-1737.
32. Schwab M, Schaeffeler E, Marx C, Zanger U, Aulitzky W, Eichelbaum M. 2001. Shortcoming in the diagnosis of TPMT deficiency in a patient with Crohn's disease using phenotyping only. Gastroenterology 121:498-499.
33. Singh G, Fries JF, Spitz P, Williams CA. 1989. Toxic effects of azathioprine in rheumatoid arthritis. A national post-marketing perspective. Arthritis Rheum 32:837-843.
34. Spire-Vayron de la Moureyre C, Debuysere H, Mastain B, Vinner E, Marez D, Lo Guidice JM, Chevalier D, Brique S, Motte K, Colombel JF, Turck D, Noel C, Flipo RM, Pol A, Lhermitte M, Lafitte JJ, Libersa C, Broly F. 1998. Genotypic and phenotypic analysis of the polymorphic thiopurine S-methyltransferase gene (TPMT) in a European population. Br J Pharmacol 125:879-887.
35. Standen GR, Wood NA. 2001. Heterozygosity for the thiopurine methyltransferase *3A allele in an acute non-lymphoblastic leukaemia patient with delayed marrow regeneration following H-DAT chemotherapy. Br J Haematol 112:1089.
36. 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.
37. Tai HL, Krynetski EY, Yates CR, Loennechen T, Fessing MY, Krynetskaia NF, Evans WE. 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.
38. Tan BB, Lear JT, Gawkrodger DJ, English JS. 1997. Azathioprine in dermatology: a survey of current practice in the U.K. Br J Dermatol 136:351-355.
39. Thervet E, Anglicheau D, Toledano N, Houllier AM, Noel LH, Kreis H, Beaune P, Legendre C. 2001. Long-term results of TMPT activity monitoring in azathioprine-treated renal allograft recipients. J Am Soc Nephrol 12:170-176.
40. Turner MW, Dinan L, Heatley S, Jack DL, Boettcher B, Lester S, McCluskey J, Roberton D. 2000. Restricted polymorphism of the mannose-binding lectin gene of indigenous Australians. Hum Mol Genet 9:1481-1486.
41. Weinshilboum RM, Sladek SL. 1980. Mercaptopurine pharmacogenetics: monogenic inheritance of erythrocyte thiopurine methyltransferase activity. Am J Hum Genet 32:651-662.
42. Wells RJ, Woods WG, Buckley JD, Odom LF, Benjamin D, Bernstein I, Betcher D, Feig S, Kim T, Ruymann F. 1994. Treatment of newly diagnosed children and adolescents with acute myeloid leukemia: a Children's Cancer Group study. J Clin Oncol 12:2367-2377.
43. Wood N, Bidwell J. 1996. Genetic screening and testing by induced heteroduplex formation. Electrophoresis 17:247-254.
44. Wood NA, Keen LJ, Tilley LA, Bidwell JL. 2001. Determination of cytokine regulatory haplotypes by induced heteroduplex analysis of DNA. J Immunol Methods 249:191-198.
45. Yates CR, Krynetski EY, Loennechen T, Fessing MY, Tai HL, Pui CH, Relling MV, Evans WE. 1997. Molecular diagnosis of thiopurine S-methyltransferase deficiency: genetic basis for azathioprine and mercaptopurine intolerance. Ann Intern Med 126:608-614.