Article
Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells. Application to the characterization of a glycine 997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal dysplasia.
The Journal of biological chemistry - 5 Jul 1991
Chan D, Cole W G
Abstract excerpt
Cultured dermal fibroblasts were shown, using amplification of cDNA by the polymerase chain reaction, to produce very low levels of spliced transcripts from the COL2A1 gene that encodes the cartilage-specific alpha 1(II) chains of type II collagen. Cultured lymphoblastoid cells were also shown to produce very low levels of spliced transcripts from the COL1A1 and COL1A2 genes that encode the alpha 1(I) and alpha...
Topics
- Base Sequence
- Cells, Cultured
- Collagen
- DNA
- Fibroblasts
- Glycine
- Heterozygote
- Humans
- Lymphocytes
- Molecular Sequence Data
- Mutation