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.
Winterpacht
A
A
Children's Hospital, University of Mainz, Germany.
Hilbert
K
K
Schwarze
U
U
Zabel
B
B
D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000032:analysis; D004252:DNA Mutational Analysis; D005091:Exons; D006801:Humans; D008969:Molecular Sequence Data; D010009:Osteochondrodysplasias / Q000235:genetics; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011347:Procollagen / Q000235:genetics*
D011347:Procollagen; D004247:DNA