采用二代测序技术对卵圆孔未闭家系进行基因突变筛查与分析  

Mutation screening and analysis of a patent foramen ovale family using next generation sequencing

作　　者：杜媛[1] 韩秀[1] 彭丹亚 王强 李娟 殷艳蓉[1] DU Yuan;HAN Xiu;PENG Danya;WANG Qiang;LI Juan;YIN Yanrong(Department of Cardiovascular Medicine,First Affiliated Hospital of Xi’an Jiaotong University;Key Laboratory of Molecular Cardiology of Shaanxi Province;Key Laboratory of Environment and Genes Related to Diseases,Ministry of Education,Xi’an Jiaotong University,Xi’an 710061,China;Third Department of Internal Medicine,Danfeng County Hospital)

机构地区：[1]西安交通大学第一附属医院心血管内科,陕西省分子心脏病学重点实验室,环境与疾病相关教育部重点实验室,西安710061 [2]陕西省丹凤县人民医院内三科

出　　处：《山西医科大学学报》2018年第7期758-761,共4页Journal of Shanxi Medical University

基　　金：陕西省重点研发计划-国际科技合作项目(2017KW-065)

摘　　要：目的对1例卵圆孔未闭(patent foramen ovale,PFO)家系所有成员进行致病基因筛查研究。方法收集该家系所有成员资料包括临床表现、体格检查、心电图、超声心动图。抽取先证者及其家系成员外周血,提取基因组DNA,应用二代测序法(心血管病检测Panel)对先证者及家系内其余PFO患者进行候选基因突变检测。结果该家系中有血缘关系的9人中共7人被证实罹患卵圆孔未闭。二代测序未发现可以解释PFO患者主要临床表型的致病/疑似致病性变异,也未发现与其他表现有PFO的综合征相关的基因存在异常。结论该PFO家系家族聚集性提示可能存在遗传基因的异常,虽然采用二代测序进行基因筛查结果为阴性,但不能排除体细胞突变或其他遗传因素影响可能,进一步随访检测寻找致病基因对于该家系患者仍尤为重要。Objective To identify the potential pathogenic gene mutations among a family with patent foramen ovale(PFO).Methods Clinical data,family history,ECG and echocardiogram were collected from the proband as well as family members.Genomic DNA was extracted from blood sample of PFO patients in this family,and a gene panel related to hereditary cardiovascular diseases was detected using next generation sequencing.Results Seven in nine persons with consanguinity in this family were diagnosed with PFO.No pathogenic/suspected pathogenic gene mutation was identified to explain the predominant clinical phenotype in these PFO patients using second-generation sequencing.And no variants in other PFO-related syndrome-associated genes were found.Conclusion The family aggregation finding in this PFO family indicates the genetic predisposition.Although no any gene mutation is found in this family,somatic mutation and other genetic influence can’t be excluded.Further genetic detection in follow-up is an urgently need.

关 键 词：卵圆孔未闭 基因筛查 突变 二代测序 

分 类 号：R541.1[医药卫生—心血管疾病]