Article
Characterization of a type I collagen alpha 2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV. Detection of the mutation and prenatal diagnosis by a chemical cleavage method.
The Biochemical journal - 15 Jun 1991
Bateman J F, Hannagan M, Chan D, Cole W G
Abstract excerpt
A chemical cleavage method for detecting mismatched bases in heteroduplexes formed between patient mRNA and control cDNA probes was employed to identify a single base mutation in a heterozygous case of osteogenesis imperfecta type IV. The parents' fibroblast mRNA did not contain the mutation. The...
Topics
- Amino Acid Sequence
- Base Sequence
- Cells, Cultured
- Child
- Chorionic Villi
- Collagen
- Female
- Glycine
- Hot Temperature
- Humans
- Molecular Sequence Data
- Mutation
- Nucleic Acid Heteroduplexes
- Osteogenesis Imperfecta
- Pregnancy