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| Wang,Xiran; Pei,Yu; Dou,Jingtao; Lu,Juming; Li,Jian; Lv,Zhaohui. |
| Osteogenesis imperfecta (OI) is a family of genetic disorders associated with bone loss and fragility. Mutations associated with OI have been found in genes encoding the type I collagen chains. People with OI type I often produce insufficient α1-chain type I collagen because of frameshift, nonsense, or splice site mutations in COL1A1 or COL1A2. This report is of a Chinese daughter and mother who had both experienced two bone fractures. Because skeletal fragility is predominantly inherited, we focused on identifying mutations in COL1A1 and COL1A2 genes. A novel mutation in COL1A1, c.700delG, was detected by genomic DNA sequencing in the mother and daughter, but not in their relatives. The identification of this mutation led to the conclusion that they were... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Osteogenesis imperfecta; Chinese OI type 1 family; Type I collagen; Sequence analysis; Frameshift mutation. |
| Ano: 2015 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000100001 |
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