Rapid detection of a common dihydropyrimidine dehydrogenase mutation associated with 5-fluorouracil toxicity and congenital thymine uraciluria using fluorogenic hybridization probes

Clinical Biochemistry

Volumn 34, Issue 2, 2001, Pages 103-105

  Nauck, Markus ^a   Gierens, Hedi ^a   März, Winfried ^a   Wieland, Heinrich ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DIHYDROPYRIMIDINE DEHYDROGENASE; FLUOROURACIL; THYMINE; URACIL;

ARTICLE; CONGENITAL THYMINE URACILURIA; DNA HYBRIDIZATION; ENZYME ACTIVITY; FLUORESCENCE; GENE AMPLIFICATION; GENE PROBE; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; INBORN ERROR OF METABOLISM; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL;

ALLELES; ANTIMETABOLITES; DIHYDROURACIL DEHYDROGENASE (NADP); FLUORESCENT DYES; FLUOROURACIL; GENOTYPE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEIC ACID HYBRIDIZATION; OXIDOREDUCTASES; POLYMORPHISM, GENETIC; SEQUENCE ANALYSIS, DNA; TEMPERATURE; THYMINE; URACIL;

EID: 0035052703     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0009-9120(01)00188-6     Document Type: Article

References (10)

1. Pharmacogenetics: A laboratory tool for optimizing therapeutic efficiency
2. Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency
3. Potential importance of dihydropyrimidine dehydrogenase (DPD) in cancer chemotherapy
4. Familial pyrimidinemia and pyrimidinuria associated with severe fluorouracil toxicity
5. Molecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity
6. The LightCycler: A microvolume multisample fluorimeter with rapid temperature control
7. Homogeneous amplification and variant detection by fluorescent hybridization probes
8. Rapid beta-globin genotyping by multiplexing probe melting temperature and color
9. Rapid genotyping of human platelet antigen 1 (HPA-1) with fluorophore-labelled hybridization probes on the LightCycler
10. Common DPYD mutation associated with 5-fluorouracil toxicity detected by PCR-mediated site-directed mutagenesis