Article
Mutation characteristics in type I collagen genes in Chinese patients with osteogenesis imperfecta.
Genetics and molecular research : GMR - 8 Feb 2011
Yang Z, Ke Z F, Zeng C, Wang Z, Shi H J, Wang L T
Abstract excerpt
Osteogenesis imperfecta is normally caused by an autosomal dominant mutation in the type I collagen genes COL1A1 and COL1A2. The severity of osteogenesis imperfecta varies, ranging from perinatal lethality to a very mild phenotype. Although there have been many reports of COL1A1 and COL1A2 mutations, few cases have been reported in Chinese people. We report on five unrelated families and three sporadic cases. The...
Topics
- Adolescent
- Adult
- Asian People
- Child
- Child, Preschool
- Collagen
- Collagen Type I
- Collagen Type I, alpha 1 Chain
- DNA Mutational Analysis
- Female
- Humans
- Male
- Mutation
- Osteogenesis Imperfecta
- Polymerase Chain Reaction
- Young Adult