title: Sequencing of Lipoprotein Lipase Gene in 11 Cases of Chinese Patients with Severe Endogenous Hypertriglyceridemia.
abstract: Sequencing analysis of lipoprotein lipase (LPL) gene exons l-9 was made in 11 cases of Chinese patients with severe endogenous hypertriglyceridemia (serum TG > 7.68 mmol/L) by the dideoxy chain termination method using Sequenase PCR Product Sequencing Kit. Four of the patients were found to possess 3 variants at the LPL gene locus. One novel mutation was observed at exon 8 Thr(361)-Thr (C(1338)-A). This was a conservative mutation with an allele frequency of 1l.4% in the 74 of the Chinese controls. Two others Ala(261)-Thr (G(1037)-A) in exon 6 and Ser(447)-Ter (C(1595)-G) in exon 9, which were also found in Caucasians and have been reported to have disease associations with dyslipidaemia, showed at frequencies of 0% and 10.7% in the Chinese controls respectively. However, it is the first time that these three genetic variants have been reported in Chinese subjects. The results show that the gene variation of LPL may not be associated with endogenous hypertriglyceridemia in Chinese population.
authors.affiliation: Institute of Biochemistry and Molecular Biology, West China University of Medical Sciences, Chengdu 610041, China.
authors.forename: Qiu-Ping
authors.initials: QP
authors.lastname: Zhang
authors.forename: Bing-Wen
authors.initials: BW
authors.lastname: Liu
authors.forename: Yu
authors.initials: Y
authors.lastname: Liu
authors.forename: Ping
authors.initials: P
authors.lastname: Fan
authors.forename: Ming-De
authors.initials: MD
authors.lastname: Fu
authors.forename: Zhao-Feng
authors.initials: ZF
authors.lastname: Wu
authors.forename: J Galton
authors.initials: JG
authors.lastname: David