Genetic Linkage of a Polymorphism in the Type II Procollagen Gene (COL2A1) to Primary Osteoarthritis Associated with Mild Chondrodysplasia

Abstract

OSTEOARTHRITIS is a clinically heterogeneous disease characterized by a progressive degeneration of the articular cartilages of both weight-bearing and non-weight-bearing joints.¹ Some forms of the disease are due to environmental or systemic events, such as trauma, infections, and metabolic disorders, but most patients have primary osteoarthritis for which there is no identifiable cause. At the same time, the inheritance of the disease in some families is well documented.^{2 , 3} We analyzed restriction-fragmentlength polymorphisms (RFLPs) to show that one allele of the gene for Type II procollagen (COL2A1), the precursor of the major protein of cartilage,^{4 , 5} is inherited with a precocious form . . .