Other

Larisa Sereda

Darwin J Prockop

James M Early

Leena M Ala-Kokko

Michael Pack

Loretta D Spotila

Alain Colige

Susanna Annunen

Mirko Vuoristo

Petteri Paassilta

Andrea Westerhausen Larson

Tero Pihlajamaa

Constantinos D Deltas

Jarmo K&ouml;rkk&ouml;

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.

Compositions and methods for detecting altered COL1A1 gene sequences

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Philadelphia, PA, United States of America

Larisa Sereda