| 中国人群肥厚型心肌病患者心肌肌钙蛋白基因突变研究 |
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| 引用本文： | 吴恒芳,万文辉,杨笛,卞智萍,徐晋丹,马文珠,张寄南.中国人群肥厚型心肌病患者心肌肌钙蛋白基因突变研究[J].中国组织工程研究与临床康复,2003(21). |
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| 作者姓名： | 吴恒芳 万文辉 杨笛 卞智萍 徐晋丹 马文珠 张寄南 |
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| 作者单位： | 南京医科大学第一附属医院心血管病研究所 江苏省南京市210029
(吴恒芳，万文辉，杨笛，卞智萍，徐晋丹，马文珠)，南京医科大学第一附属医院心血管病研究所 江苏省南京市210029(张寄南) |
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| 基金项目： | 江苏省自然科学基金资助项目(BK2001155)~~ |
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| 摘 要： | 目的:初步探讨中国人群肥厚型心肌病患者心肌肌钙蛋白T基因突变情况,为该病的早期防治和康复介入奠定理论基础。方法:提取58例肥厚型心肌病(hypertrophiccardiomyopathy,HCM)患者外周血白细胞基因组DNA,聚合酶链反应(PCR)扩增心肌肌钙蛋白T(cTnT)基因8、9、11号外显子,产物做单链构象多态性(SSCP)分析,出现异常条带者直接测序验证。结果:58例临床确诊的HCM患者cTnT基因8,9,11号外显子,除160位密码子存在ATC和ATT多态性外,未发现基因位点的异常。结论:与国外报道的肥厚型心肌病约20%是由肌钙蛋白T基因突变引起相比较,中国人群肥厚型心肌病患者基因突变可能存在不同的特点。
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| 关 键 词： | 心肌病 肥大型 肌钙蛋白T 突变 基因 多态现象 单链构象 |
A study on cardiac troponin T mutations in Chinese patients with hypertrophic cardiomyopathy |
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| Heng Fang Wu,Wen Hui Wan,Di Yang,Zhi Ping Bian,Jin Dan Xu,Wen Zhu Ma,Ji Nan ZhangHeng Fang Wu,Wen Hui Wan,Di Yang,Zhi Ping Bian,Jin Dan Xu,Wen Zhu Ma,Ji Nan Zhang.A study on cardiac troponin T mutations in Chinese patients with hypertrophic cardiomyopathy[J].Journal of Clinical Rehabilitative Tissue Engineering Research,2003(21). |
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| Authors: | Heng Fang Wu Wen Hui Wan Di Yang Zhi Ping Bian Jin Dan Xu Wen Zhu Ma Ji Nan ZhangHeng Fang Wu Wen Hui Wan Di Yang Zhi Ping Bian Jin Dan Xu Wen Zhu Ma Ji Nan Zhang |
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| Institution: | Heng Fang Wu,Wen Hui Wan,Di Yang,Zhi Ping Bian,Jin Dan Xu,Wen Zhu Ma,Ji Nan ZhangHeng Fang Wu,Wen Hui Wan,Di Yang,Zhi Ping Bian,Jin Dan Xu,Wen Zhu Ma,Ji Nan Zhang,Institute of Cardiovascular Research,First Affiliated Hospital of Nanjing Medical University,Nanjing 210029,China |
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| Abstract: | AIM:To determine the mutation characteristics of cardiac troponin T gene in Chinese patients with hypertrophic cardiomyopathy. METHODS:Genonic DNA was extracted from peripheral blood leukocytes by phenol chloroform extraction methods.The exons 8,9 and 11 of cardiac troponin T gene in 58 patients with hypertrophic cardiomyopathy were amplified by PCR, and the PCR products were underwent SSCP analysis. If any abnormal band was detected on the gel, the PCR product was sequenced directly. RESULTS:In addition to an ATC and ATT polymorphism on codon 160, there was no mutation detected in the 58 HCM patients. |
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| Keywords: | Compared to what reported abroad the mutations in cardiac troponin T may have different characteristics in Chinese patients with hypertrophic cardiomyopathy |
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