Compositions and methods for diagnosis of mutation in the von Hi

Details Compositions and methods for diagnosis of mutation in the von Hi Compositions and methods for diagnosis of mutation in the von Hi

1996-08-19

2000-01-11

Myers, Carla J.

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

435 912, 536 235, 536 231, 536 2433, 536 2431, C12Q 168, C12P 1934, C07H 2104

Patent

active

060134364

ABSTRACT:
The instant invention relates to methods and products for the diagnosis of mutations in the von Hippel-Lindau tumor suppressor gene. More specifically, the products are DNA oligonucleotides for use in amplifying and sequencing genomic DNA and kits including these oligonucleotides. The method of the invention relates to a hierarchical system for cost-effective diagnosis of von Hippel-Lindau tumor suppressor disease-associated mutations.

REFERENCES:
patent: 5545527 (1996-08-01), Stevens et al.
patent: 5552283 (1996-09-01), Diamandis et al.
patent: 5654138 (1997-08-01), Lerman et al.
GenBank Report, Accession No. L15409 (1993).
GenBank Report, Accession No. U19763 (1995).
Listing of DNA Sequences for VHL cDNA, exon probes and intron probes found in the Genome Data Base.TM. as of Nov. 3, 1995.
Listing of DNA Sequences for VHL intron primers found in the Genome Data Base.TM. as of Nov. 3, 1995, and map showing positions relative to Sequences shown in application.
Travis, J., "New Tumor Suppressor Gene Captured", Science 260: 1235 (1993).
Latif et al., "Identification of the von Hippel-Lindau Disease Tumor Suppressor Gene", Science 260: 1317-1320 (1993).
Richards et al., "Mapping the Von Hippel-Lindau disease tumour suppressor gene: identification of germline deletions by pulsed field gel electrophoresis", Hum. Molec. Gen. 2: 879-882 (1993).
Gnarra et al., "Mutations of the VHL tumour suppressor gene in renal carcinoma" Nature Genetics 7: 85-90 (1994).
Chen et al.., "Germline Mutations in the von Hippel-Lindau Disease Tumor Suppressor Gene: Correlations with Phenotype", Human Mutation 6: 66-75 (1995).
Kuzmin et al., "Identification of the promoter of the human von Hippel-Lindau disease tumor suppressor gene", Oncogene 10: 2185-2194 (1995).
Duan et al., "Inhibition of Transcription Elongation by the VHL Tumor Suppressor Protein", Science 269: 1402-1406 (1995).
Orita et al., "Detection of polymorphisms of human DNA by gel electrophoresis as single-stranded polymorphisms" Proc. Nat'l Acad. Sci. (USA) 86: 2766-2770 (1989).
Rychlik, W. "Selection of Primers for Polymerase Chain Reaction", Meth. Molec. Biol. 15: 31-40 (1993).
Shimizu et al., "Detection of Mutations of the RB1 Gene in Retinoblastoma Pateitns by Using Exon-by-Exon PCCR-SSCP Analysis", Am. J. Hum. Genet. 54: 793-800 (1994).
Lohmann et al., "Detection of small RB1 gene deletions in retinoblastoma by multiplex PCR and high-resolution gel electrophoresis" Hum. Genet. 89: 49-53 (1992).
Breslauer et al., "Predicting DNA duplex stability from the base sequence", Proc. Nat'l Acad. Sci. (USA)83: 3746-3750 (1986).
Chamberlain et al., "Detection of Gene Deletions using Multiplex Polymerase Chain Reactions", Meth. Molec. Biol. 9: 299-312.
Dunn et al., "Sequence Based Diagnosis of Retinoblastoma", J. Cellular Biochem. Supp 18C: 199 (1994).
Sun et al., "The von Hippel-Lindau (VHL) disease tumor-suppressor gene is not mutated in nasopharyngeal carcinomas" Int. J. Cancer 60: 437-438 (1995).
Decker et al., "Molecular and Cytogenetic Studies on Sproadic and Familial Forms of Renal Cell Carcinomas", Cancer Genet. Cytogenet. 84: 130 (1995).
Latif et al. Science 260: 1317-1320, 1993.

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