A Study On The Mutations In Promoter And Exon 2～4 Of The Lipoprotein Lipase Gene

Lipoprotein lipase (LPL) is a key enzyme of lipid metabolism, its primary function is the hydrolysis of the core triglycerides of circulating chylomicrons and very low density lipoproteins. The mutations in the LPL gene may lead to the change of LPL activities and masses. To screen the LPL gene for mutations in Chinese population and to study the possible effects of the mutations on plasma lipids, the LPL gene (all translated exons, intron-exon boundaries and the upstream 5' flanking region) was examined by PCR-SSCP analysis, and the PCR products showing abnormal pattern on SSCP were sequenced using dideoxy-mediated chain-termination method. Two mutations were found in 140 Chinese people, both of them were a single transition (C-T) at six bp upstream from acceptor splicing site of intron 3. The mutation in intron 3 of the LPL gene may be one of the genetic risks for hyperglyceridemia in Chinese population. In addition, none of the regulatory mutations were found in this study. However, The occurrences and impacts of all the possible variants in the LPL regulatory gene should be further investigated.