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中文摘要：
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。
英文摘要：
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.
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