Molecular Studies in Achondroplasia using Co12A1 Probes
Type II Collagen is the major collagen of mature cartilage and consists of a trimer of Co12A1 chains. We have been using Co12A1 gene probes to study patients with various chondrodystrophies including Achondroplasia. We have used clones spanning 90% of the Co12A1 sequence in Southern analyses of the DNA of over 50 patients with Achondroplasia using the restriction enzymes EcoR1, HindIII, and BamH1. In no case were abnormal bands observed which would be indicative of a major gene rearrangement.