Nucleic acids, methods and kits for the diagnosis of DYT6 primary torsion dystonia
AssigneesMount Sinai School of Medicine, Beth Israel Medical Center
InventorsLaurie Ozelius, Susan Bressman
Life of this patent
Estimating the term…
Abstract
The invention relates generally to the THAP1 gene and mutations in this gene, as well as the THAP1 protein and mutations in this protein, that are associated with dystonia. The invention relates to the identification, isolation, cloning and characterization of the DNA sequence corresponding to the wild type and mutant THAP1 genes, as well as isolation and characterization of their transcripts and gene products. The invention further relates to methods and kits useful for detecting mutations in THAP1 that are associated with dystonia, as well as to methods and kits useful for diagnosing dystonia. The present invention also relates to therapies for treating dystonia, including gene therapeutics and protein/antibody based therapeutics.
Claims6
A method for detecting the presence of a THAP1 mutation in a biological sample from a human subject, comprising:
- (a) determining all or a part of a THAP1 nucleic acid coding sequence in the biological sample from the subject;
- and
- (b) identifying a c.85 C>T mutation in the THAP1 nucleic acid coding sequence in the biological sample from the subject, wherein the nucleotide position corresponds to position 85 of SEQ ID NO:
- 4.
Dependencies are inferred from the claim text.