Organic compounds -- part of the class 532-570 series – Organic compounds – Carbohydrates or derivatives
Patent
1995-04-14
1999-11-02
Zitomer, Stephanie W.
Organic compounds -- part of the class 532-570 series
Organic compounds
Carbohydrates or derivatives
536 243, 536 2433, 536 235, 435 6, 435 912, 935 6, 935 8, 935 9, 935 78, C07H 2104, C07H 2102, C12P 1934, C12Q 168
Patent
active
059773332
ABSTRACT:
A nucleotide sequence, specifically a CTG triplet repeat, is shown to be expanded in individuals affected with myotonic dystrophy and can be identified in a sample obtained from an individual. Individuals in whom the CTG triplet repeat is present in normal copy number are likely to be minimally affected and individuals in whom the CTG triplet repeat occurs in abnormally high copy number are likely to be more severely affected.
REFERENCES:
patent: 5387506 (1995-02-01), Blumenfeld et al.
G. Jansen et al. "Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs" Nature Genetics Jul. 1992 (1)261-266.
H.J.M. Smeets et al. "Identification of Variable Simple Sequence Motifs in 19q 13.2-qter:Markers for the Myotonic Dystrophy Locus" Genomics Feb. 1991 (9)257-263.
Ausubel et al eds "Short Protocols in Molecular Biology" (1989) John Wiley and Sons, New York pp. 172-178, 190-194, and 201-231.
Mahadevan, M.S., et al., "Structure and Genomic Sequence of the Myotonic Dystrophy (DM Kinase) Gene," Hum. Mol. Genet., 2 (3) :299-304 (1993).
Harley, H.G., et al., "Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy," NATURE, 355:545-546 (1992).
Buxton, J. et al,, "Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy," NATURE, 355: 547-548 (1992).
Aslanidis, C., et al., "Cloning of the essential myotonic dystrophy region and mapping of the putative defect," NATURE, 355: 548-551 (1992).
Sabouri, Luc A., et al., "Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene," NATURE GENETICS 4:233-238 (Jul. 1993).
Wang, Yuh-Hwa, et al., "Preferential Nucleosome Assembly at DNA Triplet Repeats from the Myotonic Dystrophy Gene," SCIENCE 265:669-671 (Jul. 29, 1994).
Roses, A.D., and Appel, S. H., "Muscle membrane protein kinase in myotonic muscular dystrophy," NATURE, 250:245-247 (1974).
Willems, Patrick J., "Dynamic mutations hit double figures," NATURE GENETICS 8:213-215 (Nov. 1994).
Brook, J.D., et al., "Molecular Basis of Myotonic Dystrophy: Expansion of a Trinucleotide (CTG) Repeat at the 3' End of a Transcript Encoding a Protein Kinase Family Member," CELL, 68: 799-808 (1992).
Fu, Y.-H., et al., "An Unstable Triplet Repeat in a Gene Related to Myotonic Muscular Dystrophy," SCIENCE, 255:1256-1258 (1992).
Caskey, C.T., et al., "Triplet Repeat Mutations in Human Disease," SCIENCE, 256:784-788 (1992).
Tsilfidis, C., et al., "D19S51 is Closely Linked with and Maps Distal to the Myotonic Dystrophy Locus on 19q", AM. J. HUM. GENET., 49:961-965 (1991).
Smeets, H., et al., "A Long-Range Restriction Map of the Human Chromosome 19q13 Region: Close Physical Linkage Between CKMM . . . ERCC2 Genes," AM. J. HUM. GENET. 46:492-501 (1990).
Johnson, K., et al., "A New Polymorphic Probe Which Defines the Region of Chromosome 19 Containing the Myotoic Dystrophy Locus," AM. J. HUM. GENET. 46:1073-1081 (1990).
Ropers, H.H., et al., "Report of the second international workshop on human chromosome 19 mapping," Cytogenetics & Cell Genetics:92-95 (1992).
Bowden, D.W., et al,, "Studies on locus expansion, library representation, and Chromosome walking using an efficient method to screen cosmid libraries," Gene 71:391-400 (1988).
Shaw, Duncan J., et al., "Genomic Organization and Transcriptional Units at the Myotonic Dystrophy Locus," GENOMICS, 18:673-679 (1993).
Hofmann-Radvanyi, Helene, et al., "Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele," Hum. Mol. Genetics, 2(8):1263-1266 (1993).
Wieringa, Be, "Commentary: Myotonic dystrophy reviewed: back to the future?," Hum. Mol. Genetics, 3 (1):1-7 (1994).
Carango, Paul, et al., "Absence of Myotonic Dystrophy Protein Kinase 9DMPK) mRNA as a Result of a Triplet Repeat Expansion in Myotonic Dystrophy," GENOMICS, 18:340-348 (1993).
Brook J. David
Harley Helen G.
Housman David E.
Johnson Keith J.
Shaw Duncan J.
Massachusetts Institute of Technology
Shoemaker Deborah G.
University of Wales College of Medicine
Zitomer Stephanie W.
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