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青壮年猝死综合征SCN2B、SCN4B基因检测 被引量：3

Screening of SCN2B and SCN4B genes in sudden manhood death syndrome
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摘要 目的寻找SCN2B、SCN4B基因的变异位点,探讨其与青壮年不明原因夜间睡眠中猝死(SMDS)的关系。方法提取SMDS病例组及健康对照组的基因组DNA,采用聚合酶链式反应(PCR)方法扩增SCN2B、SCN4B基因编码区外显子、外显子-内含子交界区以及3'侧翼区序列,直接行DNA测序以明确遗传变异类型。结果在病例组中共检测到4个变异位点,c.237+27A>G,c.*38C>T,c.174C>T(p.C58C)和c.*7C>T。结论本研究首次对中国人SMDS病例进行了SCN2B、SCN4B基因的检测,上述基因是否为中国人SMDS的易感基因尚有待进一步研究证实。 Objective To screen the variations of SCN2B and SCN4B genes and address their association with sudden manhood death syndrome（SMDS）.Methods Genomic DNA was extracted from blood samples of the SMDS cases and the matched normal controls.All encoding exons,including the splice junctions and 3′-UTRs were PCR amplified and directly sequenced.Results There were four variants in the case group,c.237＋27AG,c.＊38CT,c.174CT（p.C58C） and c.＊7CT.Conclusion This is the first report of SCN2B and SCN4B genes screening in Chinese SMDS.Whether or not SCN2B or SCN4B gene is a susceptibility gene for Chinese SMDS deserves a further research.
作者 孙溢 王雯 刘超 刘双高 郑金祥 刘宏 成建定
机构地区 福州市公安局 深圳市公安局罗湖分局 广州市刑事科学技术研究所 广州军区总医院附属 中山大学中山医学院法医学系
出处 《中国法医学杂志》 CSCD 2013年第4期263-266,278,共5页 Chinese Journal of Forensic Medicine
基金 国家自然科学基金项目(30973367 81172901) 中央高校基本科研业务费专项资金项目(11ykpy04) "十二五"国家科技支撑计划项目(2012BAK02B02) 教育部留学回国人员科研启动基金(第44批)资助
关键词 法医病理学 SCN2B基因 SCN4B基因 青壮年猝死综合征 forensic pathology SCN2B gene SCN4B gene sudden Manhood death syndrome（SMDS）
分类号 D919 [医药卫生—法医学]
  • 相关文献

参考文献15

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共引文献6

同被引文献58

  • 1吴莘,汪坚敏,张春炳,周龙女.葛根素联合丹参对急性脑梗死患者血管内皮功能的影响[J].医师进修杂志,2004,27(7):19-20. 被引量：11
  • 2郝春光,习杨彦彬,刘佳,戴萍,王廷华.SCN2b mRNA在快速老化小鼠额叶和海马中的表达及变化[J].神经解剖学杂志,2007,23(6):662-665. 被引量：3
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引证文献3

二级引证文献13

中国法医学杂志
2013年 第4期

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