|本期目录/Table of Contents|

[1]徐迎佳,李若谷,刘华,等.散发性扩张型心肌病相关TBX20基因突变谱分析[J].国际心血管病杂志,2017,03:153-156.
　XU Yingjia,LI Ruogu,LIU Hua,et al.Analysis of the mutational spectrum of TBX20 associated with sporadic dilated cardiomyopathy[J].International Journal of Cardiovascular Disease,2017,03:153-156.
点击复制

散发性扩张型心肌病相关TBX20基因突变谱分析(PDF)

《国际心血管病杂志》[ISSN:1006-6977/CN:61-1281/TN]

期数:
2017年03期
页码:
153-156
栏目:
出版日期:
2017-05-30

文章信息/Info

Title:
Analysis of the mutational spectrum of TBX20 associated with sporadic dilated cardiomyopathy
作者:
徐迎佳; 李若谷; 刘华; 曲新凯; 杨奕清; 仇兴标
200030 上海交通大学附属胸科医院心内科
Author(s):
XU Yingjia;  LI Ruogu;  LIU Hua;  QU Xinkai;  YANG Yiqing;  QIU Xingbiao
Department of Cardiology, Shanghai Chest Hospital, Shanghai Jiaotong University, Shanghai 200030, China
关键词:
扩张型心肌病;  分子遗传学;  TBX20
Keywords:
Dilated cardiomyopathy;  Molecular genetics;  TBX20
分类号:
-
DOI:
10.3969/j.issn.1673-6583.2017.03.008
文献标识码:
-
摘要:
目的:分析散发性扩张型心肌病(dilated cardiomyopathy, DCM)相关TBX20基因突变谱。方法:从中国汉族人群中选择105例散发性DCM患者和130名健康对照者,采集静脉血并使用核酸纯化试剂盒纯化基因组DNA,采用PCR试剂扩增TBX20基因的全部编码外显子,对扩增的TBX20基因片段进行测序,将所得序列与GenBank数据库中的TBX20基因序列进行对比,借助MUSCLE分析突变氨基酸在进化上的保守性,应用MutationTaster和PolyPhen-2预测突变的致病性。结果:在
Abstract:
Objective:To analyze the mutational spectrum of TBX20 associated with sporadic dilated cardiomyopathy(DCM).Methods:A cohort of 105 unrelated patients with sporadic DCM and 130 unrelated healthy control subjects were recruited from the Chinese Han populati

参考文献/References

[1] Zhao CM, Sun B, Song HM, et al. TBX20 loss-of-function mutation associated with familial dilated cardiomyopathy[J]. Clin Chem Lab Med, 2016, 54(2):325-332.
[2] McNally EM, Golbus JR, Puckelwartz MJ. Genetic mutations and mechanisms in dilated cardiomyopathy[J]. J Clin Invest, 2013, 123(1):19-26.
[3] 梁华生, 张黔桓, 陈泗林. 扩张型心肌病致病基因的研究进展[J]. 国际心血管病杂志, 2016, 43(1):22-24.
[4] Li RG, Li L, Qiu XB, Yuan F, et al. GATA4 loss-of-function mutation underlies familial dilated cardiomyopathy[J]. Biochem Biophys Res Commun, 2013, 439(4):591-596.
[5] Zhang XL, Dai N, Tang K, et al. GATA5 loss-of-function mutation in familial dilated cardiomyopathy[J]. Int J Mol Med, 2015, 35(3):763-770.
[6] Xu L, Zhao L, Yuan F, et al. GATA6 loss-of-function mutations contribute to familial dilated cardiomyopathy[J]. Int J Mol Med, 2014, 34(5):1315-1322.
[7] Yuan F, Qiu XB, Li RG, et al. A novel NKX2-5 loss-of-function mutation predisposes to familial dilated cardiomyopathy and arrhythmias[J]. Int J Mol Med, 2015, 35(2):478-486.
[8] Zhang XL, Qiu XB, Yuan F, et al. TBX5 loss-of-function mutation contributes to familial dilated cardiomyopathy[J]. Biochem Biophys Res Commun, 2015, 459(1):166-171.
[9] Zhou YM, Dai XY, Huang RT, et al. A novel TBX20 lossoffunction mutation contributes to adultonset dilated cardiomyopathy or congenital atrial septal defect[J]. Mol Med Rep, 2016, 14(4):3307-3314.
[10] Zhou YM, Dai XY, Qiu XB, et al. HAND1 loss-of-function mutation associated with familial dilated cardiomyopathy[J]. Clin Chem Lab Med, 2016, 54(7):1161-1167.
[11] Li J, Liu WD, Yang ZL, et al. Prevalence and spectrum of GATA4 mutations associated with sporadic dilated cardiomyopathy[J]. Gene, 2014, 548(2):174-181.
[12] Zhou W, Zhao L, Jiang JQ, et al. A novel TBX5 loss-of-function mutation associated with sporadic dilated cardiomyopathy[J]. Int J Mol Med, 2015, 36(1):282-288.
[13] Greulich F, Rudat C, Kispert A. Mechanisms of T-box gene function in the developing heart[J]. Cardiovasc Res, 2011, 91(2):212-222.
[14] Pan Y, Geng R, Zhou N, et al. TBX20 loss-of-function mutation contributes to double outlet right ventricle[J]. Int J Mol Med, 2015, 35(4):1058-1066.
[15] Parlakian A, Charvet C, Escoubet B, et al. Temporally controlled onset of dilated cardiomyopathy through disruption of the SRF gene in adult heart[J]. Circulation, 2005, 112(19):2930-2939.
[16] Kirk EP, Sunde M, Costa MW, et al. Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy[J]. Am J Hum Genet, 2007, 81(2):280-291.
[17] Shen T, Aneas I, Sakabe N, et al. Tbx20 regulates a genetic program essential to adult mouse cardiomyocyte function[J]. J Clin Invest, 2011, 121(12):4640-4654.

备注/Memo

备注/Memo:
基金项目:国家自然科学基金(81470372)
通信作者:仇兴标,Email:qxingbiao@sina.com.cn
更新日期/Last Update: 2017-05-30