3例成骨发育不全患者COLIA1基因突变检测  

Detection of COLIA1 gene mutation in 3 patients with osteogenic hypoplasia

作　　者：彭珊璐 吴晓涛 谭家泽 李凤艳 Peng Shanlu;WU Xiaotao;TAN Jia-ze;LI Feng-Yan(Pingshan District People's Hospital of Shenzhen,Guangdong Province,Shenzhen 518118,China)

机构地区：[1]深圳市坪山区人民医院,广东深圳518118

出　　处：《当代临床医刊》2023年第3期93-94,共2页Journal of Contemporary Clinical Medicine

基　　金：深圳市坪山区卫生系统科研项目,项目编号:(202067)。

摘　　要：目的成骨发育不全家系致病基因的鉴定。方法检测先证者3例及家族成员9例的COLIA1、COLIA2、LEPRE1与CRTAP基因编码区DNA序列,将其突变位点寻找出来。结果3例先证者中,存在致病基因突变2例,占总数的66.67%,其中COLIA1基因突变2例,占100.00%。相同的COLIA1基因Gly767>Ser突变1例,占9.30%,在33外显子区分布,是中国人成骨不全突变热点。临床表型和突变基因型有一定的相关性存在。结论成骨发育不全家系致病基因主要为COLIA1,可能为成骨不全的早期诊断提供新的信息。Objective To identify the pathogenic genes of osteoblastic dysplasia in a family.Methods The DNA sequences of COLIA1,COLIA2,LEPRE1 and CRTAP gene coding regions of 3 proband and 9 family members were detected,and the mutation sites were found out.Results Among the 3 proband patients,there were 2 cases of pathogenic gene mutation,accounting for 66.67%of the total number,and 2 cases of COLIA1 gene mutation,accounting for 100.00%.The same COLIA1 gene Gly767>Ser mutation was found in 1 case,accounting for 9.30%,and distributed in exon 33 region,which was the hot spot of osteogenesis implasia mutation in Chinese.There was a certain correlation between clinical phenotype and mutant genotype.Conclusion COLIA1 is the main pathogenic gene in osteoblastic dysplasia,which may provide new information for the early diagnosis of osteogenesis imperfecta.

关 键 词：成骨发育不全家系 致病基因 鉴定 功能 

分 类 号：R68[医药卫生—骨科学]