一成骨不全家系的COL1A1基因突变检测

来源 :遗传学报 | 被引量 : 0次 | 上传用户：ly303237971

【摘要】

：

成骨不全(Osteogenesis imperfecta,OI)是一种由于Ⅰ型胶原形成障碍,导致骨脆性增强为主要症状的常染色体显性遗传性疾病.临床上主要表现为骨质脆弱、蓝巩膜、耳聋和中等程度

【作者】

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秦炜何隽祥施瑾邢清和高建军钱学庆刘壮俊舒安利

【机构】

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上海交通大学Bio-X生命科学研究中心,中国科学院上海生命科学研究院营养科学研究所,甘肃省张掖地区医院放射科,浙江大学医学院附属第一医院,湖南怀化医学高等专科学校

【出处】

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遗传学报

【发表日期】

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2004年期

【关键词】

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成骨不全连锁分析突变剪接位点 Osteogenesis imperfecta linkage analysis mutation splice site

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成骨不全(Osteogenesis imperfecta,OI)是一种由于Ⅰ型胶原形成障碍,导致骨脆性增强为主要症状的常染色体显性遗传性疾病.临床上主要表现为骨质脆弱、蓝巩膜、耳聋和中等程度的关节畸形等症状.成骨不全基因分别定位于17q21.31-q22和7q22.1,其致病基因分别为COL1A1和COL1A2.对一常染色体显性遗传的成骨不全家系进行连锁分析,在COL1A1遗传位点发现紧密连锁(LOD=9.31;θ=.00).突变检测发现在COL1A1基因第26内含子5′端剪接位点处存在一由GT转换为AT的致病突变,该突变引起的异常剪接是导致成骨不全的致病原因之一.

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一成骨不全家系的COL1A1基因突变检测

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