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人体组织激肽释放酶基因5′端调控序列点突变的检测 被引量:2

Detection of Single nucleotide Polymorphism in the 5′ flanking Region of the Human Tissue Kallikrein Gene
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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 。 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.
出处 《航天医学与医学工程》 CAS CSCD 北大核心 2003年第2期145-146,共2页 Space Medicine & Medical Engineering
基金 国家自然科学基金资助 (39970 2 75 30 0 70 2 78)
关键词 激肽释放酶 单核苷酸多态性 基因突变 等位基因特异寡核苷酸片段分析 kallikrein gene single nucleotides polymorphism ASO sequencing
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