一个遗传性出血性毛细血管扩张症家系的致病基因研究  

Pathogenic Genes of A Hereditary Hemorrhagic Telangiectasia Pedigree

作　　者：成小慧 涂传清[1] 孙顺昌[1] 黎建云[1] 张旭艳[1] 王典文 黄灿[1] 

机构地区：[1]深圳市宝安区人民医院血液内科,广东深圳518101

出　　处：《中国实验血液学杂志》2015年第4期1161-1164,共4页Journal of Experimental Hematology

基　　金：深圳市宝安区科技计划社会公益项目资助(深圳市宝安区科技局2013023)

摘　　要：目的:通过对一个遗传性出血性毛细血管扩张症家系进行ENG基因和ALK1基因测序,确定基因突变位点。方法:用RT-PCR方法对家系4代11名成员的ENG基因14个外显子和ALK1基因9个外显子进行扩增;扩增产物纯化后直接测序查找基因突变位点。结果:先证者及家系其他患者ENG基因第4外显子存在无义突变c.447G﹥A,导致149位氨基酸Trp(UGG)变为Stop(UGA),在该家系未发现ALK1基因突变。结论:ENG基因无义突变c.G447A引起氨基酸发生p.Trp149Stop改变,是该家系致病的遗传基础。Objective : To identify the mutation of ENG and ALK1 genes in a hereditary hemorrhagic telangiectasia pedigree. Me thods: 14 exons of ENG gene and 9 exons of ALK1 gene in 11 menbers of this pedigree 4 generation were amplified by reverse transcription-polymerase chain reaction( RT-PCR),the PCR products were screened by direct sequencing. Re sults: A nonsense mutation c. 447 G ﹥ A was found in exon 4 of ENG gen of the pedigreee,resulting in change of Trp 149 into Stop,while no gene mutation was found in ALK1 gene. Conclusion: The hereditary hemorrhagic telangiectasia in this pedigree is caused by the nonsense mutation c. 447 G ﹥ A in ENG gene.

关 键 词：遗传性出血性 毛细血管扩张 突变 

分 类 号：R543.7[医药卫生—心血管疾病]