Methods and compositions for detecting dihydropyrimidine...

Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid

Reexamination Certificate

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C435S189000, C435S320100, C435S091200, C435S026000, C536S023100, C536S023200, C536S023500, C530S350000, C436S094000

Reexamination Certificate

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07402387

ABSTRACT:
The present invention provides compositions, methods, and kits for the detection of genetic polymorphisms or mutations of the dihydropyrimidine dehydrogenase deficiency (DPDD). The polymorphisms or mutations generally occur in the dihydropyrimidine dehydrogenase (DPD) gene in chromosome 1. Also provided are mutant forms of DPD.

REFERENCES:
patent: 5856454 (1999-01-01), Gonzalez et al.
patent: WO 95/28489 (1995-10-01), None
patent: WO 97/35034 (1997-09-01), None
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Guo et al., Nucleic Acid Research 22(24):5456-5465, 1994.
Gonzalez, F. et al., “Diagnostic analysis, clinical importance and molecular basis of dihydropyrimidine dehydrogenase deficiency,”TiPS, 16:325-327 (1995).
Hiroshi Y. et al. “cDNA cloning and chromosome mapping of human dihydropyrimidine dehydrogenase, an enzyme associated with 5-flourouracil toxicity and congenital thymine uraciluria,”J. Biol. Chem., vol. 269, pp. 23192-23196 (1994).
Kuilenburg, Andre B.P. et al.: “Lethal outcome of a patient with a complete dihydropyrimidine dehydrogenase (DPD) deficiency after administration of 5-fluorouracil: frequency of the common IVS14+1G>A mutation causing DPD Deficiency”;Clinical Cancer Research, vol. 7; pp. 1149-1153; May 2001.
Kuivaniemi, Helena et al.: “Identical G+1 to A mutations in three different introns of the Type III procollagene gene (COL3A1) produce different patterns of RNA splicing in three variants ot Ehlers-Danlos Syndrome IV”;J. Biological Chem., vol. 265, No. 20; pp. 12067-12074; Jul. 15, 1990.
Marvit, J. et al: “GT to AT transition at a splice donor site causes skipping of the preceeding exon in penylketonuria,”Nucleic Acids Research, vol. 15, No. 14, pp. 5613-5628, (1987).
Meinsma, R. et al., “Human Polymorphism in Drug Metabolism: Mutation in the Dihydropyrimidine Dehydrogenase Gene Results in Exon Skipping and Thymine Uracilurea,”DNA&Cell. Biol., 14(1)1-6 (1995).
Roy et al., “Molecular scanning of human diseases,”Singapore J. of Obstetrics and Gyn., vol. 26, No. 3, pp. 176-186, (Nov. 1995).
Vreken, P. et al., “A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency,”J. Inherit. Metab. Dis., 19(5):645-54 (1996).
Wei, X. et al. “Molecular Basis of the Human Dihydropyrimidine Dehydrogenase Deficicency and 5-Fluorouracil Toxicity,”J. Clin. Invest., 98(3)610-615 (1996).
Yokota, Hiroshi et al.: “cDNA cloning and chromosome mapping of human dihydropyrimidine dehydrogenase, and enzyme associated with 5-flouorouracil toxicity and congenital thymine uracilura”; J. Biological Chemistry, vol. 269, No. 37; pp. 23192-23196 (Sep. 16, 1994).
OMIM Entry for “Dyhydropyrimidine Dehydrogenase; DPYD” printed on Dec. 3, 2003.

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