Ⅳ型成骨发育不全家系的遗传分析  

Genetic analysis in a family with Osteogenesis imperfecta type Ⅳ

作　　者：李松[1] 袁静[1] 许烨烨[1] 方慧琴[1] 丛林[1] 

机构地区：[1]安徽医科大学第一附属医院产前诊断中心,合肥230022

出　　处：《现代妇产科进展》2015年第3期205-208,共4页Progress in Obstetrics and Gynecology

摘　　要：目的:对Ⅳ型成骨发育不全(OI)的一个家系进行临床调查分析和基因检测,探讨家族性成骨发育不全基因型与表型的关系。方法:根据临床特征对该家族成员进行初步分型,再采用高通量测序(high-throughput sequencing)的方法快速、准确地检测候选基因的变化。结果:Ⅲ5胎儿及家族内其他成员均存在COL1A2基因编码区多态性c.2746G〉A(p.Giy916Arg)和COL1A1基因编码区错义,同义突变。结论:明确家族性OI基因型与表型的关系将为OI患者及其家庭提供快速、准确地遗传咨询和优生建议。Objective： Clinical investigation analysis and genetic testing of a family with os- teogensis imperfecta type IV, discussing the relationship between genotype and phenotype. Methods： Preliminary classification based on clinical characteristics of the family members ,and then the appli- cation of high-throughput sequencing methods for rapid and accurate detection of changes in candi- date gene. Results：Genetic testing of the fetus of 1115 and other members of the family revealed a missense mutation of c. 2746G〉A,pGly916Arg in COL1A2 gene coding region and missense muta- tion, synonymous mutation in COL1 A1 gene coding region. Conclusion：Clearing the relationship be- tween genotype and phenotype in a family with osteogensis impeffecta will provide fast,accurate ge- netic counselin~ and eugenics suzzestions for OI oatients and their families.

关 键 词：成骨发育不全 基因型与表现型 遗传分析 

分 类 号：R596[医药卫生—内科学]