Non-radioactive multiplex-SSCP analysis: detection of a new type II procollagen gene (COL2A1) mutation.

We have developed a protocol that allows fast and efficient mutation screening of the 54 exons from the type II procollagen (COL2A1) gene. The protocol is based on the multiple non-radioactive hybridization of blotted single-strand conformation polymorphism gels. Using this screening procedure we have been able to identify a new (Gly895 to Ser) mutation in the COL2A1 gene of a patient with a mild form of spondyloepiphyseal dysplasia congenita.