Article
Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent.
American journal of human genetics - 1 Jun 1990
Wallis G A, Starman B J, Zinn A B, Byers P H
Abstract excerpt
Fibroblasts from a man with a mild form of osteogenesis imperfecta (OI) and from his son with perinatal lethal OI (OI type II) produced normal and abnormal type I procollagen molecules. The abnormal molecules synthesized by both cell strains contained one or two pro alpha 1(I) chains in which the glycine at position 550 of the triple-helical domain was substituted by arginine as the result of a G-to-A transition...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- Cells, Cultured
- Electrophoresis, Gel, Two-Dimensional
- Female
- Fibroblasts
- Genes, Lethal
- Humans
- Male
- Molecular Sequence Data