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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 search for the mutation sites of SCN2B and SCN4B genes and to explore their relationship with sudden death (SMDS) during nighttime sleepless nights in unknown age. Methods The genomic DNA of SMDS cases and healthy controls were extracted and the coding region exons, exon - intron junction regions and 3 ’flanking region sequences of SCN2B and SCN4B genes were amplified by polymerase chain reaction (PCR) , Direct DNA sequencing to determine the type of genetic variation. Results Four mutation sites were detected in the case group, c.237 + 27A> G, c. * 38C> T, c.174C> T (p.C58C) and c. * 7C> T. Conclusion This study is the first to detect SCN2B and SCN4B gene in Chinese patients with SMDS. Whether these genes are susceptible genes of Chinese SMDS remains to be confirmed.