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目的 利用变性高效液相色谱法（DHPLC）结合测序筛选和鉴定鼻咽癌基因的单核苷酸多态性（SNPs）。方法 PCR扩增30例鼻咽癌患者和28例正常对照者6p21.3区域基因PPP1R11、PP1R10、FLOT1、KIAA0170的4个外显子与1个内含子片断,采用DHPLC技术对扩增片断进行基因变异检测,将不同的类型PCR片断进行全序列测定并与参考序列对照分析。结果 在5个片断中初步鉴定出4个未见报道的新SNP位点,验证了4个已知的SNPs位点和基因型。结论 DHPLC预测结合全序列测序是一种高效、经济、简便、可靠的SNP筛选方法。
Objective To screen and identify single nucleotide polymorphisms (SNPs) of NPC genes by denaturing high performance liquid chromatography (DHPLC) combined with sequencing. Methods Four exons and one intron fragment of PPP1R11, PP1R10, FLOT1 and KIAA0170 in 6p21.3 region of 30 patients with nasopharyngeal carcinoma and 28 normal controls were amplified by PCR. The amplified fragment was amplified by DHPLC Gene mutation detection, different types of PCR fragments were sequenced and compared with the reference sequence analysis. Results Four novel SNP sites were identified in five fragments and four known SNPs and genotypes were identified. Conclusion DHPLC prediction combined with full sequence sequencing is an efficient, economical, simple and reliable SNP screening method.