人脂蛋白脂酶的基因多态性分析

Analyzing Polymorphism of Lipoprotein Lipase Gene in 101 Normal Subjects

为分析人脂蛋白脂酶基因多态性，采用两对引物进行聚合酶链反应（ｐｏｌｙｍｅｎａｓｅｃｈａｉｎｒｅ－ａｃｔｉｏｎ，ＰＣＲ）扩增人脂蛋白脂酶（ｌｉｐｏｐｒｏｔｅｉｎｌｉｐａｓｅ，ＬｐＬ）基因内含子６区和８区的ＰＶＵⅡ（１８９ｂｐ）和ＨｉｎｄⅢ（７１５ｂｐ）位点特异性片段。分别用限制性内切酶ＰＶＵⅡ和ＨｉｎｄⅢ酶解上述的ＰＣＲ产物。琼脂糖凝胶电泳后分离上述的酶解片段进行多态性分析。结果１０１名正常健康人ＬｐＬ的等位基因频率分别是Ｐ１６７．８％，Ｐ２３２．２％；Ｈ１７７．２％，Ｈ２２２．３％。此法简便、灵敏，且结果可靠。

Using technique of polymerase chain reactionrestriction fragment lengths polymorphism (PCRRFLP), we detected the genotypes of lipoprotein lipase in 101 normal subjects. First amplified the specific base pairs of 189bp and 715bp in intron 6 and 8 region of human lipoprotein lipase (LpL) gene. Then we analysed genotypes using agarose electrophonesis after they were digested by PVUⅡ and HIND Ⅲ endonuclease. It shows that the technique of PCRRFLP was a useful measure to detect the genotypes of LpL. LpL gene was polymorphism, the frequence of LpL gene were H 1 777% H 2 22.3%, P 1 67.8%, P 2 32.2% respectively.