【摘要】 目的探讨一种能有效检测组织激肽释放酶基因启动子区点突变的实验技术。方法提取 1 6例外周血的人基因组DNA ,经PCR反应扩增出目标启动子区后 ,与寡核苷酸探针杂交 ,并进行测序 ,比较 2种方法的准确性。结果 1 2例为纯合子 ,无G碱基插入 ;4例杂交结果阳性 ,其中 2例为杂合子 ;2种方法结果吻合。结论与测序法相比 ,本文ASO法经济、简便、灵敏度和准确率高 ,适合做大规模人群检测更多还原

【Abstract】 Objective To determine an efficient detective method studying the single nucleotide pdymorphism(SNP) in the promoter region of human tissue kallikrein gene. Method A 180 bp fragment containing the polymorphic region amplified by PCR using human genome as the template, was analyzed by hybridization with the oligonucleotide probe and direct DNA sequencing. Result 12 persons were homogenous with negative hybridization results, while the mutation of G insertion existed in the others, of whom 2 were heterogenous. The results of hybridization were in accordance with those of DNA sequencing. Conclusion With good accuracy and specificity, the ASO method is more economical to be used to detect the promoter region polymorphism of kallikrein gene in large population.更多还原