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目的:比较双向等位基因特异性PCR(Bi-PASA)法与聚合酶链式反应-限制性片段长度多态性(RFLP)法对EZH2基因单核苷酸多态性(SNPs)位点rs887569基因分型结果有无差异,并用Bi-PASA法对EZH2基因rs17171119位点基因分型后分析与结直肠癌(CRC)易感性的相关性。方法:提取96名CRC患者与100名体检健康者的外周血DNA,分别用Bi-PASA法与聚合PCR-RFLP法检测EZH2基因单核苷酸多态性(SNPs)位点rs887569基因型,对两种分型结果进行比较;使用Bi-PASA法对EZH2基因rs17171119位点进行基因分型后用病例-对照方法分析该SNPs在中国人群中的分布。结果:Bi-PASA与PCR-RFLP对EZH2基因rs887569位点基因分型的准确率分别为99.5%和100%;EZH2基因的rs17171119 SNPs位点多态性与结直肠癌易感性无显著相关性(P=0.938,OR=0.846,95%CI:0.586-1.221)。结论:Bi-PASA是一种简单有效检测SNPs的方法,分型结果较为可靠;rs17171119 SNPs位点多态性与结直肠癌易感性无关,但本结论还有待更大样本量基因分型的验证。
OBJECTIVE: To compare the polymorphisms of single nucleotide polymorphisms (SNPs) rs887569 in EZH2 gene by bi-directional allele-specific PCR (Bi-PASA) and polymerase chain reaction-restriction fragment length polymorphism (RFLP) Genotyping results with or without differences, and Bi-PASA method EZH2 gene rs17171119 loci post-genotyping analysis and colorectal cancer (CRC) susceptibility. Methods: Peripheral blood DNA was extracted from 96 patients with CRC and 100 healthy controls. The rs887569 genotypes of single nucleotide polymorphisms (SNPs) of EZH2 gene were detected by Bi-PASA and PCR-RFLP respectively. The genotypes of rs17171119 of EZH2 gene were analyzed by Bi-PASA method. The case-control method was used to analyze the distribution of SNPs in Chinese population. Results: The genotyping accuracy of rs887569 locus in EZH2 gene by Bi-PASA and PCR-RFLP was 99.5% and 100%, respectively. There was no significant correlation between rs17171119 SNPs loci in EZH2 and susceptibility to colorectal cancer P = 0.938, OR = 0.846, 95% CI: 0.586-1.221). Conclusion: Bi-PASA is a simple and effective method to detect SNPs, and the typing results are more reliable. SNPs at rs17171119 have no relationship with susceptibility to colorectal cancer, but this conclusion still needs to be verified by a larger sample size genotyping .