Article
Heterozygous mutation in the G+5 position of intron 33 of the pro-alpha 2(I) gene (COL1A2) that causes aberrant RNA splicing and lethal osteogenesis imperfecta. Use of carbodiimide methods that decrease the extent of DNA sequencing necessary to define an unusual mutation.
The Journal of biological chemistry - 25 Jun 1991
Ganguly A, Baldwin C T, Strobel D, Conway D, Horton W, Prockop D J
Abstract excerpt
Cultured skin fibroblasts from a proband with osteogenesis imperfecta were found to synthesize normal and shortened alpha 2(I) chains of type I procollagen. A cDNA library was prepared using mRNA isolated from the proband's fibroblasts. Partial nucleotide sequencing of five clones demonstrated th...
Topics
- Adult
- Alleles
- Base Sequence
- Cells, Cultured
- Cloning, Molecular
- Electrophoresis, Agar Gel
- Electrophoresis, Polyacrylamide Gel
- Female
- Genes, Lethal
- Heterozygote
- Hot Temperature
- Humans
- Microscopy, Electron