心律失常的基因诊断
摘要
遗传性心律失常综合征往往南基因突变引起,而这些异常基因主要为编码心脏离子通道蛋白的基因,因而这类疾病也被称为离子通道病;其他还包括编码细胞骨架蛋白、细胞间连接蛋白等的基因。基因诊断即利用现代分子生物学和分子遗传学的技术方法,
出处
《诊断学理论与实践》
2008年第4期364-367,共4页
Journal of Diagnostics Concepts & Practice
基金
北京市首都发展基金(2005-2012)
参考文献24
-
1[1]Medeiros-Domingo A,Iturralde-Tortes P,Ackerman MJ.Clinical and genetic characteristics of long QT syndrome[J].Rev Esp Cardiol,2007,60(7):739-752.
-
2[2]Priori SG,Pandit SV,Rivolta I,et al.A novel form of short QT syndrome(SQT3)is caused by a mutation in the KCNJ2 gene[J].Circ Res,2005,96(7):800-807.
-
3[3]Antzelevitch C.Bmgada syndrome[J].Pacing Clin Elec-trophysiol.2006,29(10):1130-1159.
-
4[4]London B,Michalec M,Mehdi H,et al.Mutation in glycerol-3-phosphate dehydrogenase 1 like gene(GPD1-L) decreases cardiac Na+current and causes inherited arrhythmias[J].Circulation,2007,116(20):2260-2268.
-
5[5]Lehnart SE,Ackerman MJ,Benson DW,et al.Inherited arrhythmias:a National Heart,Lung and Blood Institute and Office of Rare Diseases workshop consensus report about the diagnosis,phenotyping,molecular mechanisms,and therapeutic approaches for primary cardiomyopathies of gene mutations affecting ion channel function[J].Cir-culation,2007,116(20):2325-2345.
-
6[6]Swan H,Piippo K,Viitasalo M,et al.Arrhythmic disor-der mapped to chromosome 1q42-q43 cauls malignant polymorphic ventricular tachycardia in structurally norreal hearts[J].J Am Coil Cardiol,1999,34(7):2035-2042.
-
7[7]Lahat H,Eldar M,Levy-Nissenbaum E,et al.Autosemal recessive catecholamine-or exercise-induced polymorphic ventricular tachycardia:clinical features and assignment of the disease gene to chromosome lp13-21[J].Circulation,2001,103(23):2822-2827.
-
8[8]Thiene G,Corrado D,Basso C.Arrhythmogenic right ventricular cardiomyopathy/dysplasia[J].Orphanet J Rare Dis,2007,14(2):45.
-
9[9]Ellinor PT,Shin JT,Moore RK,et al.Locus for fibfillation maps to chromosome 6q14-16[J].Circulation,2003,107(23):2880-2883
-
10[10]Poclzing S,Fodeo C,Samodell M,et al.SCN5A polymorphism restores trafficking of a Brogada syndrome mutation on a separate gene[J].Circulation,2006,114(5):368-376.
-
1杨新春,李延辉.遗传性心律失常综合征[J].临床内科杂志,2006,23(7):443-446. 被引量:1
-
2张春炳,刘建平.心脏"隐形杀手"——离子通道病[J].家庭用药,2014(3):23-23.
-
3张鹏飞,徐予,赵永辉.心源性猝死发病机制的研究进展[J].中国实用医刊,2015,42(5):119-121. 被引量:3
-
4陈杰.急诊内科老年急性腹痛的70例临床诊治分析[J].世界最新医学信息文摘,2014,14(23):8-8. 被引量:2
-
5楼盛,吴立群.短QT综合征的遗传学及其相关研究进展[J].中国分子心脏病学杂志,2006,6(3):177-180. 被引量:1
-
6杨国宗,杨丽阳.单核苷酸多态性与2型糖尿病易感基因相关性的研究进展[J].实验与检验医学,2015,33(1):48-50. 被引量:4
-
7王晓波,罗平,刘康桐,邓万俊.短QT综合征发病机制的研究近况[J].医学综述,2007,13(5):387-389.
-
8谭含璇,喻研,王琳.遗传性心律失常综合征[J].内科急危重症杂志,2010,16(5):260-264.
-
9王君.短QT综合征的研究进展[J].中国医师进修杂志(内科版),2008,31(6):70-72.
-
10洪葵,刘欣,胡大一.2013HRS/EHRA/APHRS遗传性心律失常综合征患者诊断和治疗专家共识解读[J].中华心血管病杂志,2013,41(11):978-981. 被引量:7