CAJ | 학술논문

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.
성골불전(Osteogenesis imperfecta,OI)시일충유우Ⅰ형효원형성장애,도치골취성증강위주요증상적상염색체현성유전성질병.림상상주요표현위골질취약、람공막、이롱화중등정도적관절기형등증상.성골불전기인분별정위우17q21.31-q22화7q22.1,기치병기인분별위COL1A1화COL1A2.대일상염색체현성유전적성골불전가계진행련쇄분석,재COL1A1유전위점발현긴밀련쇄(LOD=9.31;θ=.00).돌변검측발현재COL1A1기인제26내함자5′단전접위점처존재일유GT전환위AT적치병돌변,해돌변인기적이상전접시도치성골불전적치병원인지일.
Osteogenesis imperfecta(OI)is heritable bone fragility,which is inherited as an autosomal dominant trait clinical presentation.Clinical symptom,in general,is dominantly inherited OI with blue sclerae,hearing loss and mild-moderate skeletal deformity.Genetic loci of OI have been mapped to17q21.31-q22 and 7q22.1,in which COL1A1 and COL1A2 are known to be the causal genes.In this work,we performed linkage analysis in a kindred with autosomal dominant hereditary OI.A tight linkage to the markers on chromosome 17q21.31-q22 (maximum two-point lod score:9.31 at θ=.00) was observed.Sequence analysis of COL1A1 revealed a single-base mutation that converted the consensus sequence at the 5′end of intron 26 from GT to AT to form an abnormal splicing site leading to OI.