NOVEL SPLICING MUTATION OF COL1A1 GENE CAUSING OSTEOGENESIS IMPERFECTA TYPE I IN CHINESE PEDIGREE |
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| Authors: | WU Xiao-lin GU Ming-min CUI Bing LI Xi-hua LU Zhen-yu WANG Zhu-gang YUAN Wen-tao SONG Huai-dong |
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| Institution: | WU Xiao-lin(Department of Medical Genetics, School of Medicine, Shanghai Jiaotong University, Shanghai 200025, China)；GU Ming-min(Department of Medical Genetics, School of Medicine, Shanghai Jiaotong University, Shanghai 200025, China)；CUI Bing(Department of Medical Genetics, School of Medicine, Shanghai Jiaotong University, Shanghai 200025, China)；LI Xi-hua(Department of Medical Genetics, School of Medicine, Shanghai Jiaotong University, Shanghai 200025, China)；LU Zhen-yu(Department of Medical Genetics, School of Medicine, Shanghai Jiaotong University, Shanghai 200025, China)；WANG Zhu-gang(Department of Medical Genetics, School of Medicine, Shanghai Jiaotong University, Shanghai 200025, China)；YUAN Wen-tao(Chinese National Human Genome Center at Shanghai, Shanghai 201203, China)；SONG Huai-dong(Ruijin Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200025, China)； |
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| Abstract: | Objective To detect the peculiar mutation in a Chinese family with osteogenesis imperfecta,COL1A1 and COL1A2 being analysed. Methods A genome screen was undertaken covering COL1A1 at 17q21-22 and COL1A2 at 7q22.1. The Linkage ( Version 5.1 ) was used for 2-point analysis. DNA sequencing was used to screen and identify the mutation. Results A linkage to the markers on chromosome 17q21-22 was observed. Sequence analysis of COL1A1 revealed a splicing mutation ( IVS8-2A ＞ G) that converted the 3' end of intron 8 from AG to GG. Conclusion This mutation ( IVS 8-2A ＞ G) is novel, and has not yet been registered in the Human Type Ⅰ and Type Ⅲ Collagen Mutations Database. |
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