上海地区孤立性心房颤动患者GATA-4基因突变的研究  

Study on GATA-4 gene mutation in patients with isolated atrial fibrillation in Shanghai

作　　者：谢娟[1] 王文安[2] 施德[1] Xie Juan;Wang Wenan;Shi De(Department of Neurology,Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine Chongming branch,202150 Shanghai,China;不详)

机构地区：[1]上海交通大学医学院附属新华医院崇明分院,上海202150 [2]上海交通大学医学院附属新华医院神经内科,上海200092

出　　处：《中国循证心血管医学杂志》2020年第10期1244-1246,1250,共4页Chinese Journal of Evidence-Based Cardiovascular Medicine

摘　　要：目的研究上海崇明地区孤立性心房颤动(房颤)患者GATA-4基因突变情况。方法采用PCR直接测序技术对100例孤立性房颤患者GATA-4基因的全部外显子进行基因突变筛查。结果3例孤立性房颤患者GATA-4基因3号外显子第102位碱基发现杂合错义突变(c.102G>A,p.Ala240Thr);8例孤立性房颤患者GATA-4基因6号外显子第49位碱基发现杂合错义突变(c.49A>G,p.Asn349Ser)。结论在上海地区孤立性房颤患者中发现了GATA-4基因的p.Ala240Thr及p.Asn349Ser突变可能导致房颤发生。Objective To study the GATA-4 gene mutation in patients with isolated atrial fibrillation(AF)in Chongming District,Shanghai.Methods PCR was used to screen all exons of GATA-4 gene in 100 patients with isolated atrial fibrillation.Results 3 patients with isolated atrial fibrillation were found heterozygous missense mutations in the 102nd base of exon 3 of GATA-4 gene(c.102G>A,p.Ala240Thr);8 patients with isolated atrial fibrillation GATA-4 gene A heterozygous missense mutation was found at the 49th base of exon 6(c.49A>G,p.Asn349Ser).Conclusion The mutations of p.Ala240Thr and p.Asn349Ser of GATA-4 gene were found in isolated atrial fibrillation patients in Shanghai,which may lead to atrial fibrillation.

关 键 词：GATA-4基因 心房颤动 基因突变 

分 类 号：R541.75[医药卫生—心血管疾病]