DNA sequence encoding the Machado-Joseph disease gene and uses t

Details DNA sequence encoding the Machado-Joseph disease gene and uses t DNA sequence encoding the Machado-Joseph disease gene and uses t

1995-09-21

1998-11-24

Jones, W. Gary

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

435 912, 435 915, 435 9151, 435810, 536 243, 536 2433, 935 8, 935 77, 935 78, C12Q 168, C12P 1934, C07H 2104

Patent

active

058404910

ABSTRACT:
A method by which a nucleotide sequence, specifically a CAG triplet repeat shown to be expanded in individuals with Machado-Joseph Disease can be identified in a sample obtainable from an individual. The present methods can be used to identify individuals in whom the CAT triplet repeat is expanded, including methods useful to identify the protein encoded by the Machado-Joseph Disease gene.

REFERENCES:
patent: 5200313 (1993-04-01), Corrico
Takiyama, Y. et al., "The Gene for Machado-Joseph Disease Maps to Human Chromosome 14q," Nature Genetics, 4:300-304 (1993).
Kawakami, H. et al., "Unique Features of the CAG Repeats in Machado-Joseph Disease," Nature Genetics, 9:344-345 (1995).
Kawaguchi, Y. et al., "CAG Expansions in a Novel Gene for Machado-Joseph Disease at Chromosome 14q32.1," Nature Genetics, 8:221-228 (1994).
Karp, S.J. et al., "Molecular Cloning and Chromosomal Localization of the Key Subunit of the Human N-Methyl-D-Aspartate Receptor," J. Biol. Chem., 268(5):3728-3733 (1993).
Maruyama, H. et al., "Molecular Features of the CAG Repeats and Clinical Manifestation of Machado-Joseph Disease," Human Molecular Genetics, 4(5):807-812 (1995).
St. George-Hyslop, P. et al., "Machado-Joseph Disease in Pedigrees of Azorean Descent is Linked to Chromosome 14," Am. J. Human Genetics, 55:120-125 (1994).
Schols, L., et al., "Trinucleotide expansion within the MJD1 gene Presents Clinically as Spinocerebellar Ataxia and Occurs Most Frequently in German SCA Patients," Human Molecular Genetics, 4(6):1001-1005 (1995).
Ranum, L.P.W., et al., "Spinocerebellar Ataxia Type 1 and Machado-Joseph Disease: Incidence of CAG Expansions Among Adult-Onset Ataxia Patients from 311 Families With Dominant, Recessive or Sporadic Ataxia," Am. J. Hum. Gen., 57:603-608 (1995).
Cancel, G., et al., "Marked Phenotypic Heterogeneity Associated with Expansion of a CAG Repeat Sequence at the Spinocerebellar Ataxia 3/Machado-Joseph Disease Locus," Am. J. Hum. Gen., 57:809-816 (1995).
Takylama, Y., et al., "Evidence for Inter-Generational Instability in the CAG Repeat in the MJD1 Gene and for Conserved Haplotypes at Flanking Markers Amongst Japanese and Caucasian Subjects with Machado-Joseph Disease," Human Molecular Genetics, 4(67):1137-1146 (1995).
St. George-Hyslop, P., et al., "Machado-Joseph Disease in Pedigrees of Azorean Descent is Linked to Chromosome 14," Am. J. Hum. Gen., 55:120-125 (1994).
Adams et al. ed.s. The Biochemistry of the Nucleic Acids. Chapman & Hall, new York (1992) pp. 14-19.
Maciel et al. Am. J. Hum. Gen. 57:54-61 (Jul. 1995).

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