Molecular biological approaches to the study of heritable osteoarthritis.
Certain forms of osteoarthritis (OA) are inherited in a dominant Mendelian pattern suggesting that defects in one or more of the genes encoding for the structural components of articular cartilage may cause premature cartilage degeneration. Recent advances in molecular biology make it possible to examine the hypothesis that inherited OA is caused by mutations in the genes expressed in cartilage. These methods permit the identification of precise molecular defects and, eventually, may provide tests for the definitive diagnosis of inherited OA. Application of these tests to a general population of patients with OA may establish whether common forms of OA are also caused by mutations in these genes.
Rheumatology Research, Thomas Jefferson University, Philadelphia, PA 19107.
S A
SA
Jimenez
D000818:Animals; D002358:Cartilage, Articular / Q000378:metabolism / Q000473:pathology; D003001:Cloning, Molecular; D003094:Collagen / Q000235:genetics / Q000378:metabolism; D004195:Disease Models, Animal; D005260:Female; D006801:Humans; D008297:Male; D051379:Mice; D008822:Mice, Transgenic; D009154:Mutation / Q000235:genetics; D010003:Osteoarthritis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D012150:Polymorphism, Restriction Fragment Length; D011995:Recombination, Genetic
D003094:Collagen