Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid
Patent
1997-09-10
1999-10-05
Zitomer, Stephanie W.
Chemistry: molecular biology and microbiology
Measuring or testing process involving enzymes or...
Involving nucleic acid
435 911, 435 912, 536 231, 536 2431, 536 2433, 935 77, 935 78, C07H 2104, C07H 2102, C12Q 168, C12P 1934
Patent
active
059622300
ABSTRACT:
Methods of diagnosing glaucoma, and particularly primary congenital glaucoma, by detecting mutations in a gene associated with glaucoma, such as the CYP1B1 gene, are disclosed. Methods include hybridization analysis, such as Southern or Northern analysis, which use hybridization of a mutant nucleic acid probe to the gene associated with glaucoma; direct mutation analysis by restriction digest; sequencing of the gene associated with glaucoma; hybridization of an allele-specific oligonucleotide with amplified genomic DNA; or identification of the presence of mutant proteins encoded by the gene associated with glaucoma. Kits for use in diagnosis of glaucoma are also described. Methods of treatment of glaucoma, including administration of the protein encoded by the gene associated with glaucoma; administration of genes, gene constructs, or other nucleic acid constructs; or administration of other therapeutic agents, are additionally described.
REFERENCES:
Ming, Y.T. et al., "Isolation and Characterization of the Human Cytochrome P450 CYP1B1 Gene," J. Biol. Chem. 271 (45):28324-28330.
Bejjani, B.A. et al., "Mutations in CYP1B1, the Gene for Cytochrome P4501B1, Are the Predominant Cause of Primary Congenital Glaucoma in Saudi Arabia," Am. J. Hum. Genet. 62: 325-333 (1998).
Leff, D.N., "New-Found Gene Enables Testing Infants for Inherited Blindness Disease", BioWorld Today, 8(53):1 (Mar. 19, 1997).
Stone, E.M., et al., "Identification of a Gene That Causes Primary Open Angle Glaucoma", Science, 275:668-670 (1997).
Vogel, G., "Glaucoma Gene Provides Light at the End of the Tunnel", Science, 275:621 (1997).
Stoilova, D., et al., "Localization of a Locus (GLC1B) for Adult-Onset Primary Open Angle Glaucoma to the 2cen-q13 Region", Genomics, 36:142-150 (1996).
Sarfarazi, M., et al., "Assignment of a Locus (GLC3A) for Primary Congenital Glaucoma (Buphthalmos) to 2p21 and Evidence for Genetic Heterogeneity", Genomics, 30:171-177 (1995).
Akarsu, A.N. et al., "A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region", Human Molecular Genetics, 5(8):1199-1203 (1996).
Akarsu, A.N. et al., "Exclusion of Primary Congenital Glaucoma (Buphthalmos) From Two Candidate Regions of Chromosome Arm 6p and Chromosome 11", American Journal of Medical Genetics, 61:290-292 (1996).
Stoilov, I., et al., "Fine Mapping of Primary Congenital Glaucoma (Buphthalmos) on 2p21 and Mutation Screening of Candidate Genes", Am. J. Hum. Genet. (Supplement) 59(3): Abstract 1366 p. A237 (1996).
Yilmaz, E., "Localization and Mutation Screening of a New Locus (GLC3B) for Primary Congenital Glaucoma (Buphthalmos) on 1p36", Am. J. Hum. Genet. (Supplement) 59(3): Abstract 1404 p. A243 (1996).
Stoilova, D. et al., "Assignment of a New Locus (GLC1B) for Adult-Onset Primary Open Angle Glaucoma to the 2cen-q13 Region", Am. J. Hum. Genet. (Supplement) 59(3): Abstract A1407A p. A244 (1996).
Bejjani, B.A. et al., "Mapping strategies in Primary Congenital Glaucoma (PCG)", Am. J. Hum. Genet. (Supplement) 59(3): Abstract 1216 p. A212 (1996).
Wiggs, J.L., et al., "The juvenile glaucoma gene on 1q21-q31 is not associated with adult-onset primary open angle glaucoma", Am. J. Hum. Genet. (Supplement) 59(3): Abstract 1393 p. A242 (1996).
Allingham, R.R. et al., "Genes linked to systemic hypertension (HTN) and non-insulin dependent diabetes mellitus (NIDDM) are not associated with Primary Open Angle", Am. J. Hum. Genet. (Supplement) 59(3): Abstract 2213 p. A380 (1996).
Raymond, V. et al., "Homozygotes for autosomal dominant open-angle glaucoma at the GLCIA locus", Am. J. Hum. Genet. (Supplement) 59(3): Abstract 1625 p. A280 (1996).
Richards, J.E. et al., "Juvenile glaucoma linked to GLC1A in a family of spanish origin", Am. J. Hum. Genet. (Supplement) 59(3): Abstract 2257 p. A387 (1996).
Booth, A.P., et al., "Physical and Genetic mapping of the juvenile-onset primary open-angle glaucoma locus", Am. J. Hum. Genet. (Supplement) 59(3):Abstract 2359 p. A404 (1996).
Sunden, S.L.F., et al., "Narrowing the GLC1A critical region using a late-onset autosomal dominant open angle glaucoma family", Am. J. Hum. Genet. (Supplement) 59(3): Abstract 1369 p. A238 (1996).
Graff, C. et al., "Confirmation of linkage to 1q21-31 in a Danish autosomal dominant juvenile-onset glaucoma family and evidence of genetic heterogeneity", Human Genet., 96:285-289 (1995).
Morissette, J. et al., "A common gene for juvenile and adult onset primary open-angle glaucomas confines on chromosome 1q", Am. J. Hum. Genet., 56:1431-1442 (1995).
Richards, J.E. et al., "Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome 1q", Am. J. Hum. Genet., 54:62-70 (1994).
Seghatoleslami, M.R. et al., "Fine mapping of juvenile primary open angle glaucoma (POAG) on 1q21-q31 and exclusion of adult-POAG from the respective region", Am. J. Hum. Genet., 55:Abstract 1179, p. A203 (1994).
Seghatoleslami, M.R., et al., "Exclusion mapping of the adult-onset primary open angle glaucoma (POAG)", Invest. Ophthalmol. & Visual Science, 36(4):Abstract 4792, p. S1034 (1995).
Sheffield, V.C. et al., "A collecion of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genomewide linkage maps", Hum. Mol. Genet., 4:1837-1844 (1995).
Stoilova, D. et al., "Genetic linkage study of adult-onset primary open angle glaucoma", Am. J. Hum. Genet., 57(4):Abstract 1895, p. A326 (1995).
Wiggs, J.L. et al., "Clinical features of five pedigrees genetically linked to the juvenile glaucoma locus on chromosome 1q21-q31", Opthalmology, 102:1782-1789 (1995).
Wiggs, J.L. et al., "Genetic linkage of autosomal dominant juvenile glaucoma to 1q21-q31 in three affected pedigrees", Genomics, 21:299-303 (1994).
Sutter, T.R. et al., "Complete cDNA Sequence of a Human Dioxin-inducible mRNA Identifies a New Gene Subfamily of Cytochrome P450 That Maps to Chromosome 2", J. Biol. Chem. 269:13092-13099 (1994).
Sarfarazi, M., "Recent Advances in Molecular Genetics of Glaucomas," Humn. Mol. Genet., 6(10):1667-1677, 1997.
Stoilov, I. et al., "Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21," Hum. Mol. Genet., 4(4):641-647, 1997.
Stoilova, D. et al., "Identification of a new `TIGR` mutation in a family with juvenile-onset primary open angle glaucoma," Opthal. Genet., 18:109-118, 1997.
The University Of Connecticut
Zitomer Stephanie W.
LandOfFree
Diagnosis and treatment of glaucoma does not yet have a rating. At this time, there are no reviews or comments for this patent.
If you have personal experience with Diagnosis and treatment of glaucoma, we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and Diagnosis and treatment of glaucoma will most certainly appreciate the feedback.
Profile ID: LFUS-PAI-O-1170042