Genetic Screening of the Lipoprotein Lipase Gene for Mutations in Chinese Peoples
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    Abstract:

    Aim To screen the mutations of lipoprotein lipase gene in Chinese peoples and to study the possible effects of the mutations on the lipoprotein metabolism. Methods The lipoprotein lipase fragments were examined with 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 chain termination method. Results Four kinds of mutations were found in 386 Chinese people,including one samesense mutation(Leu~(103)→Leu in exon 3) in one sample,a C→T transition at 6 bp upstream from acceptor splicing site of intron 3 detected in three samples,a C875→T transition resulting in a P207L mutation in exon 5 in one hypertriglyceidemic patient,and a C1595→G transversion resulting in a Ser~(447)→stop mutation.One homozygous and fifty heterozygous mutations were found. Conclusions Except for Ser~(447)→stop,the character of mutations of the lipoprotein lipase gene occurred in Chinese population is different from the Europe and American population.

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ZHAO Li-Li, WANG Jun-Mei, MU Yun-Xiang, YANG Yu-Hong, ZHAO Yu, LIU Xin-Yu, and XIE Yong-Hong. Genetic Screening of the Lipoprotein Lipase Gene for Mutations in Chinese Peoples[J]. Editorial Office of Chinese Journal of Arteriosclerosis,2006,14(8):712-716.

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History
  • Received:January 04,2006
  • Revised:July 14,2006
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