一个遗传性出血性毛细血管扩张症家系的基因分析  

Gene identification in a family of hereditary hemorrhagic telangiectasia

作　　者：王丽红[1] 张志华[1] 谷翠红[1] 林丽 王陶然[1] 郝长来[1] Wang Lihong;Zhang Zhihua;Gu Cuihong;Lin Li;Wang Taoran;Hao Changlai.(Department of Hematology, Affiliated Hospital of Chengde Medical College, Chengde 067000, Chin)

机构地区：[1]承德医学院附属医院血液内科,河北承德067000

出　　处：《中华血液学杂志》2018年第6期476-479,共4页Chinese Journal of Hematology

摘　　要：目的研究一个遗传性出血性毛细血管扩张症（HHT）家系的ENG、ACVRL1、SMAD4基因突变情况，探讨其分子发病机制。方法对1例HHT患者进行临床诊断和家系调查。采集先证者及其长子外周血标本，应用芯片捕获高通量测序法进行ENG、ACVRL1、SMAD4基因分析，对检出的突变以Sanger测序法进行验证。结果71名家系成员中有9名被临床诊断为HHT，均以反复鼻腔出血为主要表现。基因分析结果显示，先证者及其长子ENG基因9号外显子存在框移突变c．1502—1503insGG（p．Gly501GlyfsX18），未检出ACVRL1、SMAD4基因突变。结论ENG基因框移突变c．1502．1503insGG（p．Gly501GlyfsX18）是这个HHT家系致病的遗传学基础。Objective To study the mutation of ENG, ACVRL1, and SMAD4 genes in one of a family of hereditary hemorrhagic telangiectasia （HHT） and explore its molecular pathogenesis. Methods A family spectrum of a patient with a clinical diagnosis of HHT was surveyed. Peripheral blood samples from proband and their eldest were collected, and ENG, ACVRL1 and SMAD4 gene analysis was performed by chip capture high-throughput sequencing. The mutation detected was verified by Sanger. Results 9 of the 71 family members were diagnosed with HHT with the main manifestation of recurrent nasal bleeding. Genetic analysis showed that the proband and the eldest son of ENG gene exon 9 frameshift mutation： c.1502-1503insGG （p.G1y501GlyfsX18）, and mutations in ACVRL1 and SMAD4 genes were not detected. Conclusion The frameshift mutation c.1502-1503insGG （p.Gly501GlyfsX18） of the ENG gene is the genetic basis for the pathogenesis of this HHT family.

关 键 词：毛细血管扩张 遗传性出血性 ENG基因 框移突变 系谱 

分 类 号：R543.7[医药卫生—心血管疾病]