Inventors:
Darwin J. Prockop - Philadelphia PA
Loretta D. Spotila - Haddonfield NJ
Constantinos D. Deltas - Nicosia, CY
Larisa Sereda - Philadelphia PA
Andrea Westerhausen Larson - Forrest Hills PA
Michael Pack - Philadelphia PA
Alain Colige - Philadelphia PA
James Early - Upper Darby PA
Jarmo Korkko - Philadelphia PA
Leena Ala-Kokko - Oulu, FI
Susanna Annunen - Oulu, FI
Tero Pihlajamaa - Oulu, FI
Mirko Vuoristo - Oulu, FI
Petteri Paassilta - Oulu, FI
Assignee:
Allegheny University of the Health Sciences - Philadelphia PA
Thomas Jefferson University - Philadelphia PA
University of Oulu - Oulu
International Classification:
C12Q 168, C12P 1934, C07H 2104
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.