一例Ⅰ型成骨不全家系的基因定位及突变检测  

Gene localization and mutation detection in a Chinese pedigree with osteogenesis imperfecta type Ⅰ

作　　者：吴晓林[1] 顾鸣敏[1] 崔斌[1] 李西华[1] 袁文涛 陆振虞[1] 宋怀东[3] 王铸钢[1] 

机构地区：[1]上海交通大学医学院医学遗传学教研室,上海200025 [2]国家人类基因组南方研究中心,上海201203 [3]上海交通大学医学院瑞金医院医学基因组学国家重点实验室,上海200025

出　　处：《上海交通大学学报（医学版）》2007年第6期699-702,共4页Journal of Shanghai Jiao tong University:Medical Science

基　　金：国家自然科学基金(30470951);国家杰出青年科学基金(39925023)~~

摘　　要：目的对国内1例成骨不全(OI)家系进行基因突变及突变效应分析,为研究中国人群的成骨不全基因突变特点提供线索。方法对成骨不全Ⅰ型胶原基因COL1A1和COL1A2所在的17号染色体和7号染色体分别进行连锁分析,对致病基因做初步判断,然后用聚合酶链反应扩增致病基因外显子,并测序检出基因突变。结果该家系为COL1A1基因突变,所有患者在该基因的第8个内含子剪切受体位点处为AG→GG(IVS8-2A>G)突变。结论对比COL1A1基因突变数据库,该突变为一新发现突变。Objective To detect the gene mutation and mutation effect in a Chinese pedigree with osteogenesis imperfecta （OI） and to lay a foundation for the research of mutation characteristics of OI in Chinese population. Methods A genome screen was undertaken covering COL1A1 at 17q21-22 and COL1A2 at 7q22. i and the Linkage was used for 2-point analysis. The pathogenic gene was preliminarily decided. The pathogenic gene exon was amplified with DNA, and DNA sequencing was used to screen and identify the mutation. Results COL1A1 mutation was detected in this pedigree. Sequence analysis of COL1A1 revealed a splicing mutation （IVSS-2A 〉 G） that converted the 3＇ end of intron 8 from AG to GG. Conclusion This mutation （IVS 8-2A 〉 G） is novel, which has not yet been registered in the COL1A1 mutations database.

关 键 词：COL1A1基因 突变分析 成骨不全 

分 类 号：Q987[生物学—遗传学]