CAJ | 학술논문

目的探讨一个成骨不全家系中COL1A 1基因的突变.方法收集一个成骨不全家系的临床资料,采用聚合酶链反应以及直接测序法对所有成员进行COL1A1基因突变的检测,同时在20名健康亲属以及200名非亲属对照中对发现的突变进行检测.结果 RNA剪接分析发现一个c.3208G＞A突变,后者造成了一种新的剪接位点,从而导致移码突变.在患者的健康亲属及正常对照中未发现同样的突变.结论 COL1A1基因突变是导致成骨不全的主要原因之一,本研究结果进一步丰富了Ⅰ型胶原基因的突变谱.
목적 탐토일개성골불전가계중COL1A 1기인적돌변.방법 수집일개성골불전가계적림상자료,채용취합매련반응이급직접측서법대소유성원진행COL1A1기인돌변적검측,동시재20명건강친속이급200명비친속대조중대발현적돌변진행검측.결과 RNA전접분석발현일개c.3208G＞A돌변,후자조성료일충신적전접위점,종이도치이마돌변.재환자적건강친속급정상대조중미발현동양적돌변.결론 COL1A1기인돌변시도치성골불전적주요원인지일,본연구결과진일보봉부료Ⅰ형효원기인적돌변보.
Objective To study a family affected with osteogenesis imperfecta for potential mutations in COL1A1 gene.Methods Clinical data of an affected family was collected.Potential mutation of the COL1A1 gene was screened using polymerase chain reaction and direct sequencing.Suspected mutation was detected in 20 unaffected relatives and 200 unrelated healthy controls.Results Analysis of RNA splicing has revealed a c.3208G/A mutation,which created a new splice sites and led to a frameshift mutation.The same mutation was not detected in the unaffected relatives or the 200 healthy controls.Conclusion Mutations of the COL1A1 gene are one of the major causes of osteogenesis imperfecta in Chinese population.Our finding has enriched the mutation spectrum of type Ⅰ collagen genes.