The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.
The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.
Patent No.:
Date of Patent:
Jul. 24, 2001
Filed:
Oct. 03, 1997
Darwin J. Prockop, Philadelphia, PA (US);
Loretta D. Spotila, Haddonfield, NJ (US);
Constantinos D. Deltas, Nicosia, CY;
Larisa Sereda, Philadelphia, PA (US);
Andrea Westerhausen Larson, Forrest Hills, PA (US);
Michael Pack, Philadelphia, PA (US);
Alain Colige, Philadelphia, PA (US);
James Early, Upper Darby, PA (US);
Jarmo Körkkö, Philadelphia, PA (US);
Leena Ala-Kokko, Oulu, FI;
Susanna Annunen, Oulu, FI;
Tero Pihlajamaa, Oulu, FI;
Mirko Vuoristo, Oulu, FI;
Petteri Paassilta, Oulu, FI;
Other;
Abstract
Compositions and methods useful for determining whether a subject has an alteration in a gene encoding a protein chain of Type I or Type IX collagen are described. Novel intronic sequences of five human genes, COL1A1, COL1A2, COL9A1, COL9A2, and COL9A3 are described. Methods of determining the existence in a subject of a pathological condition associated with an altered gene encoding a Type I or Type IX collagen protein chain are provided, wherein such pathological conditions include diseases and disorders which are known to be associated with an altered gene encoding a Type I or Type IX collagen protein chain. Primers, probes, and methods of detecting a genetic predisposition of a subject for a pathological condition associated with an altered gene encoding a Type I or Type IX collagen protein chain are provided. Diseases and disorders for which the methods and compositions of the invention are useful for diagnostic or prognostic purposes include, but are not limited to osteoporosis, osteoarthritis, chondrodysplasia, multiple epiphyseal dysplasia, osteogenesis imperfecta, shortness of stature, scoliosis, low bone density, and degenerative joint disease.