Axenfeld-Rieger综合征一家系突变基因检测分析  

Gene mutation detection of an Axenfeld-Rieger syndrome pedigree

作　　者：陈艳辉[1] 季健 刘伟 Chen Yanhui;Ji Jian;Liu Wei(Ophthalmic Hospital of Tangshan,Tangshan 063000,China)

机构地区：[1]河北省唐山市眼科医院青光眼科,063000 [2]天津医科大学眼科医院、眼视光学院﹑眼科研究所

出　　处：《现代养生》2022年第14期1148-1151,共4页Health Protection and Promotion

基　　金：河北省卫生健康委医学科学研究课题(编号:20201550)。

摘　　要：目的对一个Axenfeld-Rieger综合征家系的致病基因进行初步检测分析。方法收集一个AxenfeldRieger综合征家系的临床资料,采用聚合酶链反应和直接测序法对家系成员进行突变位点检测。结果该家系为常染色体显性遗传。DNA测序未发现PITX2基因和FOXC1基因的基因突变。结论PITX2基因和FOXC1基因不是该Axenfeld-Rieger综合征家系的致病基因,提示存在其他的未知致病基因,需要进一步的研究去检测证实。Objective To detect the gene mutation of a Chinese pedigree with Axenfeld-Rieger syndrome.Methods An Axenfeld-Rieger syndrome family was collected,the clinical data was investigated,and the gene mutation was detected by polymerase chain reaction and direct sequencing.Results The inheritance mode of the family was autosomal dominant inheritance.No mutation was detected in the candidate genes,PITX2 and FOXC1.Conclusions PITX2 and FOXC1 was not the causative gene in this Axenfeld-Rieger syndrome family,indicating that there are other unknown causative genes,which requires further study to confirm.

关 键 词：AXENFELD-RIEGER综合征 基因突变 PITX2基因 FOXC1基因 

分 类 号：R77[医药卫生—眼科]