【摘 要】
：
目的：成骨不全(osteogenesis imperfecta)又称脆骨病，为常染色体显性遗传病，大多数类型是由Ⅰ型胶原基因COL1A1和COL1A2基因突变引起的，其主要特征包括：骨骼脆性增加、骨密度降低、牙齿生长异常、蓝巩膜、中等程度的关节畸形等症状，发病率约为1：10000.目前对于COL1A1和COL1A2基因突变的报道有许多，但在中国人群中相关病例报道较少.这里，我们检测到OCA1基因的
【机 构】
：
广西壮族自治区妇幼保健院遗传代谢中心实验室,南宁,530003 广西壮族自治区妇幼保健院遗传代谢中
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目的：成骨不全(osteogenesis imperfecta)又称脆骨病，为常染色体显性遗传病，大多数类型是由Ⅰ型胶原基因COL1A1和COL1A2基因突变引起的，其主要特征包括：骨骼脆性增加、骨密度降低、牙齿生长异常、蓝巩膜、中等程度的关节畸形等症状，发病率约为1：10000.目前对于COL1A1和COL1A2基因突变的报道有许多，但在中国人群中相关病例报道较少.这里，我们检测到OCA1基因的1个已报道的致病性错义突变位点以及2个新发的错义突变位点.
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