Single nucleotide polymorphisms in genes

US6727063B1 · kind B1 · utility

Assignees

• Millennium Pharmaceuticals, Inc. · US
• Whitehead Institute For Biomedical Research · US

Inventors

• Eric S. Lander · Cambridge, US
• Michele CARGILL · San Francisco, US
• James Ireland · Somerville, US
• Stacey Bolk · Dedham, US
• George Q. Daley · Weston, US
• Jeanette McCarthy · San Diego, US

Key dates

• Filing date: Sep 7, 2000
• Grant date: Apr 27, 2004
• Expiry date: Sep 7, 2020

Classification

• Technology area (CPC C): Chemistry; Metallurgy
• CPC primary: C12Q2600/156
• WIPO field: Biotechnology
• WIPO sector: Chemistry

Abstract

The invention provides nucleic acid segments of the human genome, particularly nucleic acid segments from a gene, including polymorphic sites. Allele-specific primers and probes hybridizing to regions flanking or containing these sites are also provided. The nucleic acids, primers and probes are used in applications such as phenotype correlations, forensics, paternity testing, medicine and genetic analysis. A role for the thrombospondin gene(s) in vascular disease is also disclosed. Use of single nucleotide polymorphisms in the thrombospondin gene(s) for diagnosis, prediction of clinical course and treatment response, development of therapeutics and development of cell-culture-based and animal models for research and treatment are disclosed.