Mutational analysis of the human dihydropyrimidine dehydrogenase gene by denaturing high-performance liquid chromatography

Genetic Testing

Volumn 7, Issue 2, 2003, Pages 97-105

  Fischer, Joachim ^a   Schwab, Matthias ^a   Eichelbaum, Michel ^a   Zanger, Ulrich M ^a  

^a DR MARGARETE FISCHER BOSCH INSTITUTE OF CLINICAL PHARMACOLOGY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DIHYDROPYRIMIDINE DEHYDROGENASE; FLUOROURACIL; THYMINE; URACIL;

AMPLICON; ARTICLE; DRUG METABOLISM; ELUTION; ENZYMATIC DEGRADATION; EXON; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INBORN ERROR OF METABOLISM; INTRON; MUTAGENESIS; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; RISK; SEQUENCE ANALYSIS; TOXICITY;

ALLELES; ANTIMETABOLITES, ANTINEOPLASTIC; BASE SEQUENCE; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DIHYDROURACIL DEHYDROGENASE (NADP); DNA; DNA MUTATIONAL ANALYSIS; EXONS; FLUOROURACIL; HUMANS; INTRONS; MUTAGENESIS; NUCLEIC ACID DENATURATION; POLYMERASE CHAIN REACTION; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS; VARIATION (GENETICS);

EID: 0037477777     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/109065703322146777     Document Type: Article

References (31)

1. BAKKEREN, J.A., DE ABREU, R.A., SENGERS, R.C., GABREELS, F.J., MAAS, J.M., and RENIER, W.O. (1984). Elevated urine, blood and cerebrospinal fluid levels of uracil and thymine in a child with dihydrothymine dehydrogenase deficiency. Clin. Chim. Acta 140, 247-256.
2. BERGER, R., STOKER-DE VRIES, S.A., WADMAN, S.K., DURAN, M., BEEMER, F.A., DE BREE, P.K., WEITS-BINNERTS, J.J., PENDERS, T.J., and VAN DER WOUDE, J.K. (1984). Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism. Clin. Chim. Acta 141, 227-234.
3. COLLIE-DUGUID, E.S., ETIENNE, M.C., MILANO, G., and MCLEOD, H.L. (2000). Known variant DPYD alleles do not explain DPD deficiency in cancer patients. Pharmacogenetics 10, 217-223.
4. GONZALEZ, F.J., and FERNANDEZ-SALGUERO, P. (1995). Diagnostic analysis, clinical importance and molecular basis of dihydropyrimidine dehydrogenase deficiency Trends Pharmacol. Sci. 16, 325-357.
5. HARRIS, B.E., CARPENTER, J.T., and DIASIO, R.B. (1991). Severe 5-fluorouracil toxicity secondary to dihydropyrimidine dehydrogenase deficiency. Cancer 68, 499-501.
6. HEGGIE, G.D., SOMMADOSSI, J.P., CROSS, D.S., HUSTER, W.J., and DIASIO, R.B. (1987). Clinical pharmacokinetics of 5-fluorouracil and its metabolites in plasma, urine, and bile. Cancer Res. 47, 2203-2206.
7. HOLOPAINEN, I., PULKKI, K., HEINONEN, O.J., NANTO-SALONEN, K., HAATAJA, L., GRETER, J., HOLME, E., VAN KUILENBURG, A.B., VREKEN, P., and VAN GENNIP, A.H. (1997). Partial epilepsy in a girl with a symptom-free sister: first two Finnish patients with dihydropyrimidine dehydrogenase deficiency. J. Inherit. Metab. Dis. 20, 719-720.
8. HOOGENDOORN, B., NORTON, N., KIROV, G., WILLIAMS, N., HAMSHERE, M.L., SPURLOCK, G., AUSTIN, J., STEPHENS, M.K., BUCKLAND, P.R., OWEN, M.J., and O'DONOVAN, M.C. (2000). Cheap, accurate and rapid allele frequency estimation of SNP by primer extension and DHPLC in DNA pools. Hum. Genet. 107, 488-493.
9. HOUYAU, P., GAY, C., CHATELUT, E., CANAL, P., ROCHE, H., and MILANO, G. (1993). Severe fluorouracil toxicity in a patient with dihyropyrimidine dehydrogenase deficiency. J. Natl. Cancer Inst. 85, 1602-1603.
10. JOHNSON, M.R., WANG, K., TILLMANNS, S., ALBIN, N., and DIASIO, R.B. (1997). Structural organization of the human dihydropyrimidine dehydrogenase gene. Cancer Res. 57, 1660-1663.
11. JONES, A.C., AUSTIN, J., HANSEN, N., HOOGENDOORN, B., OEFNER, P.J., CHEADLE, J.P., and O'DONOVAN, M.C. (1999). Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis. Clin. Chem. 45, 1133-1140.
12. KALER, S.G., DEVANEY, J.M., PETTIT, E.L., KIRSHMAN, R., and MARINO, M.A. (2000). Novel method for molecular detection of the two common hereditary hemochromatosis mutations. Genet. Test. 4, 125-129.
13. KOUWAKI, M., HAMAJIMA, N., SUMI, S., NONAKA, M., SASAKI, M., DOBASHI, K., KIDOUCHI, K., TOGARI, H., and WADA, Y. (1998). Identification of novel mutations in the dihydropyrimidine dehydrogenase gene in a Japanese patient with 5-fluorouracil toxicity. Clin. Cancer Res. 4, 2999-3004.
14. LIU, W., SMITH, D.I., RECHTZIGEL, K.J., THIBODEAU, S.N., and JAMES, C.D. (1998). Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations. Nucleic Acids Res. 26, 1396-1400.
15. LU, Z.H., ZHANG, R., and DIASIO, R.B. (1992). Purification and characterization of dihydropyrimidine dehydrogenase from human liver. J. Biol. Chem. 267, 17102-17109.
16. MCLEOD, H.L., COLLIE-DUGUID, E.S., VREKEN, P., JOHNSON, M.R., WEI, X., SAPONE, A., DIASIO, R.B., FERNANDEZ-SALGUERO, P., VAN KUILENBERG, A.B., VAN GENNIP, A.H., and GONZALEZ, F.J. (1998). Nomenclature for human DPYD alleles. Pharmacogenetics 8, 455-459.
17. MILANO, G., ETIENNE, M.C., PIERREFITE, V., BARBERI-HEYOB, M., DEPORTE-FETY, R., and RENEE, N. (1999). Dihydropyrimidine dehydrogenase deficiency and fluorouracil-related toxicity. Br. J. Cancer 79, 627-630.
18. O'DONOVAN, M.C., OEFNER, P.J., ROBERTS, S.C., AUSTIN, J., HOOGENDOORN, B., GUY, C., SPEIGHT, G., UPADHYAYA, M., SOMMER, S.S., and MCGUFFFN, P. (1998). Blind analysis of denaturing high-performance liquid chromatography as a tooL for mutation detection. Genomics 52, 44-49.
19. OEFNER, P.J. (2000). Allelic discrimination by denaturing high-performance liquid chromatography. J. Chromatogr. B Biomed. Sci. Appl. 739, 345-355.
20. RAIDA, M., SCHWABE, W., HAUSLER, P., VAN KUILENBURG, A.B., VAN GENNIP, A.H., BEHNKE, D., and HOFFKEN, K. (2001). Prevalence of a common point mutation in the dihydropyrimidine dehydrogenase (DPD) gene within the 5′-splice donor site of intron 14 in patients with severe 5-fluorouracil (5-FU)-related toxicity compared with controls. Clin. Cancer Res. 7, 2832-2839.
21. RIDGE, S.A., SLUDDEN, J., BROWN, O., ROBERTSON, L., WEI, X., SAPONE, A., FERNANDEZ-SALGUERO, P.M., GONZALEZ, F.J., VREKEN, P., VAN KUILENBURG, A.B., VAN GENNIP, A.H., and MCLEOD, H.L. (1998a). Dihydropyrimidine dehydrogenase pharmacogenetics in Caucasian subjects. Br. J. Clin. Pharmacol. 46, 151-156.
22. RIDGE, S.A., SLUDDEN, J., WEI, X., SAPONE, A., BROWN, O., HARDY, S., CANNEY, P. FERNANDEZ-SALGUERO, P., GONZALEZ, F.J., CASSIDY, J., and MCLEOD, H.L. (1998b). Dihydropyrimidine dehydrogenase pharmacogenetics in patients with colorectal cancer. Br. J. Cancer 77, 497-500.
23. UNDERHILL, P.A., JIN, L., LIN, A.A., MEHDI, S.Q., JENKINS, T., VOLLRATH, D., DAVIS, R.W., CAVALLI-SFORZA, L.L., and OEFNER, P.J. (1997). Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography. Genome Res. 7, 996-1005.
24. VAN GENNIP, A.H., ABELING, N.G., VREKEN, P., and VAN KUILENBURG, A.B. (1997). Inborn errors of pyrimidine degradation: clinical, biochemical and molecular aspects. J. Inherit. Metab. Dis. 20, 203-213.
25. VAN KUILENBURG, A.B., HAASJES, J., RICHEL, D.J., ZOETEKOUW, L., VAN LENTHE, H., DE ABREU, R.A., MARING, J.G., VREKEN, P., and VAN GENNIP, A.H. (2000). Clinical implications of dihydropyrimidine dehydrogenase (DPD) deficiency in patients with severe 5-fluorouracil-associated toxicity: identification of new mutations in the DPD gene. Clin. Cancer Res. 6, 4705-4712.
26. VAN KUILENBURG, A.B., DOBRITZSCH, D., MEINSMA, R., HAASJES, J., WATERHAM, H.R., NOWACZYK, M.J., MAROPOULOS, G.D., HEIN, G., KALHOFF, H., KIRK, J.M., BAASKE, H., AUKETT, A., DULEY, J.A., WARD, K.P., LINDQVIST, Y., and VAN GENNIP, A.H. (2002). Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three dimensional protein structure. Biochem. J. 364, 157-163.
27. VREKEN, P., VAN KUILENBURG, A.B., MEINSMA, R., and VAN GENNIP, A.H. (1997). Dihydropyrimidine dehydrogenase (DPD) deficiency: identification and expression of missense mutations C29R, R886H and R235W. Hum. Genet. 101, 333-338.
28. WADMAN, S.K., BERGER, R., DURAN, M., DE BREE, P.K., STOKER-DE VRIES, S.A., BEEMER, F.A., WEITS-BINNERTS, J.J., PENDERS, T.J., and VAN DER WOUDE, J.K. (1985). Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism. J. Inherit. Metab. Dis. 8, 113-114.
29. WEI, X., MCLEOD, H.L., MCMURROUGH, J., GONZALEZ, F.J., and FERNANDEZ-SALGUERO, P. (1996). Molecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity. J. Clin. Invest. 98, 610-615.
30. WEI, X., ELIZONDO, G., SAPONE, A., MCLEOD, H.L., RAUNIO, H., FERNANDEZ-SALGUERO, P., and GONZALEZ, F.J. (1998). Characterization of the human dihydropyrimidine dehydrogenase gene. Genomics 51, 391-400.
31. YOKOTA, H., FERNANDEZ-SALGUERO, P., FURUYA, H., LIN, K., MCBRIDE, O.W., PODSCHUN, B., SCHNACKERZ, K.D., and GONZALEZ, F.J. (1994). cDNA cloning and chromosome mapping of human dihydropyrimidine dehydrogenase, an enzyme associated with 5-fluorouracil toxicity and congenital thymine uraciluria. J. Biol. Chem. 269, 23192-23196.