Association of TSPYL polymorphisms with SIDDT syndrome
US7632640B2 · kind B2 · utility
Assignee
Inventors
Key dates
| Filing date | Dec 8, 2004 |
| Grant date | Dec 15, 2009 |
| Priority date | — |
| Expiry date | Sep 28, 2025 |
Classification
- Technology area (CPC C)Chemistry; Metallurgy
- CPC primaryC12Q2600/172
- WIPO fieldBiotechnology
- WIPO sectorChemistry
Abstract
The identification of a novel mutation in the testis specific Y-like gene and association of the mutation with SIDDT syndrome are disclosed. Methods for diagnosing SIDDT syndrome are disclosed. Methods for identifying compounds for use in the diagnosis and treatment of disorders associated with mutation in the TSPYL gene are also disclosed. The invention therefore provides nucleic acid sequences, genes, polypeptides, antibodies, vectors containing the gene, host cells transformed with vectors containing the gene, animal models for the disease, methods for expressing the polypeptide, genetic screening methods and kits, diagnostic methods and kits.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.