Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid
Patent
1995-04-14
1999-09-21
Zitomer, Stephanie
Chemistry: molecular biology and microbiology
Measuring or testing process involving enzymes or...
Involving nucleic acid
435 912, 536 232, 536 235, 536 2431, 935 77, C12Q 168, C12P 1934, C07H 2104, C07H 2102
Patent
active
059552654
ABSTRACT:
A method by which a nucleotide sequence, specifically a CTG triplet repeat, shown to be expanded in individuals affected with myotonic dystrophy can be identified in a sample obtained from an individual. The present method can be used to identify individuals in whom the CTG triplet repeat is present in normal copy number and individuals in whom the CTG triplet repeat occurs in abnormally high copy number, as well as to further identify individuals likely to be minimally affected and individuals likely to be more severely affected.
REFERENCES:
patent: 5387506 (1995-02-01), Blumenfeld et al.
patent: 5552282 (1996-09-01), Caskey et al.
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 Myotonic 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).
Harper, P.S. et al. Letter "Detection of Minimum Mutation Carriers in Myotonic Dystrophy" Lancet Jul. 25, 1992 vol. 340 p. 258-259.
Harley,H.G. et. al "Size of the Unstable CTG Repeat Sequence in Relation to Phenotype and Parental Transmission in Myotonic Dystrophy" Am. J. Hum. Gent. 1993 52:1164-1174.
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
LandOfFree
DNA sequence encoding the myotonic dystrophy gene and uses there does not yet have a rating. At this time, there are no reviews or comments for this patent.
If you have personal experience with DNA sequence encoding the myotonic dystrophy gene and uses there, we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and DNA sequence encoding the myotonic dystrophy gene and uses there will most certainly appreciate the feedback.
Profile ID: LFUS-PAI-O-78912