摘要
采用聚合酶链反应(PCR)与限制性核酸内切酶HhaI消化相结合的方法建立一种简便、实用的人载脂蛋白E基因多态性检测方法。PCR扩增含有编码112和158位氨基酸的基因片断序列,产物经HhaI酶消化,经聚丙烯酰胺凝胶电泳可见2~4条特定长度的DNA条带易于判定apoE基因型。对144例汉族健康人群检测结果,apoE基因型及等位基因分布频率分别为:E2/2O,E3/368.75%,E4/42.78%,E2/314.58%,E2/42.7%,E3/411.11%;ε28.68%,ε381.6%,ε49.72%。本法适于普通实验室开展应用。
Using PCR RFLP to establish a simple and practical method for detect of human apolipoprotein E gene polymorphism.The amplified products containing the amino acid positions of 112 and 158,were digested by HhaI.There were two to four special length of DNA bands on polyacrylamide gel after electrophoresis,it is easy to determine the apo E genotype.The apo E genotypes of 144 health individuals were detected. The distribution of apo E genotype and allelic frequences was E 2/2 0,E 3/3 68 75%,E 4/4 2 78%,E 2/3 14 58%,E 2/4 2 7%,E 3/4 11 11%,ε 2 8 68%,ε 3 81 6%,ε 4 9 72% It conclude that this method is suitable for common clinical laboratory
出处
《临床检验杂志》
CAS
CSCD
北大核心
1998年第2期75-78,共4页
Chinese Journal of Clinical Laboratory Science
关键词
载脂蛋白E
基因多态性
聚合酶链反应
RFLP
Apolipoprotein E gene polymorphism Polymerase chain reaction Restriction fragment lenth polymorphism