| 青壮年猝死综合征家系及散发病例SCN5A基因突变的检测 |
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| 引用本文： | 周峰,利焕祥,张晋湘,唐双柏,卢次勇,成建定.青壮年猝死综合征家系及散发病例SCN5A基因突变的检测[J].国外医学：内科学分册,2009,36(1):1-4. |
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| 作者姓名： | 周峰 利焕祥 张晋湘 唐双柏 卢次勇 成建定 |
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| 作者单位： | 周峰,ZHOU Feng(中山大学中山医学院法医学系,广东广州510080;东莞市公安局,广东东莞523008);利焕祥,LI Huan-xiang(东莞市公安局,广东东莞,523008);张晋湘,唐双柏,成建定,ZHANG Jin-xiang,TANG Shuang-bai,CHENG Jian-ding(中山大学中山医学院法医学系,广东广州,510080);卢次勇,LU Ci-yong(中山大学公共卫生学院流行病学教研室,广东广州,510080)
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| 基金项目： | 国家自然科学基金，广东省自然科学基金 |
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| 摘 要： | 目的研究中国人青壮年猝死综合征（SUNDS）病例是否存在SCN5A基因突变。方法应用直接测序技术对74例散发病例及两个家系病例的4个成员的血纱样本进行SCN5A基因突变的检测。结果在散发病例发现突变位点R1512W、A1121A，其中A1121A为新发现的突变。结论中国人SUNDS病例存在SCN5A基因突变，后者可能与部分SUNDS的发生相关。
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| 关 键 词： | 青壮年猝死综合征 Na~+通道 SCN5A基因 突变 |
The screening of SCN5A mutations in sudden unexpected nocturnal death syndrome in Chinese Han nationality population |
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| ZHOU Feng,LI Huan-xiang,ZHANG Jin-xiang,TANG Shuang-bai,LU Ci-yong,CHENG Jian-ding.The screening of SCN5A mutations in sudden unexpected nocturnal death syndrome in Chinese Han nationality population[J].Foreign Medical Sciences(Section of Internal Medicine),2009,36(1):1-4. |
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| Authors: | ZHOU Feng LI Huan-xiang ZHANG Jin-xiang TANG Shuang-bai LU Ci-yong CHENG Jian-ding |
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| Institution: | ZHOU Feng1,2,LI Huan-xiang2,ZHANG Jin-xiang1,TANG Shuang-bai1,LU Ci-yong3,CHENG Jian-ding1.1 Department of Forensic Pathology,Zhongshan Medical School,Sun Yat-sen University,Guangzhou 510080,China,2 The Bureau of Public Security of Dongguan City,Dongguan 523008,3 Department of Epidemiology,Public Health School |
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| Abstract: | Objective To investigate if there is SCN5A gene mutation in sudden unexplained nocturnal death syndrome(SUNDS) cases in Chinese Han nationality population.Methods Seventy-four sporadic SUNDS cases and 4 members in 2 families with SUNDS family history were enrolled.Genomic DNA was extracted from blood samples.SCN5A mutation was detected by polymerase chain reaction and direct sequencing.Results Two mutations of R1512W and A1121A in SCN5A gene were detected in sporadic cases while A1121A was a novel one.Concl... |
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| Keywords: | Sudden unexplained nocturnal death syndrome Sodium channel SCN5A gene Mutation |
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