Aim To screen the lipoprotein lipase gene for mutations in Chinese population and to study the possible effects of the mutations on the lipoprotein metabolism. Methods The lipoprotein lipase gene was examined by polymerase chain reaction-single strand conformation polymorphism analysis, and the polymerase chain reaction products showing abnormal pattern on single strand conformation polymorphism were sequenced using dideoxy-mediated chain-termination method. Results Two mutations were found in 140 Chinese people and both were heterozygous C→T transitions at 6 bp upstream from acceptor splicing site of intron 3. Conclusion The mutation in intron 3 of the lipoprotein lipase gene may be the genetic risk of hyperglyceridemia in Chinese population.