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泰国原发性高脂蛋白血症中脂蛋白脂肪酶编码基因的多态性

Polymorphism of the gene encoding lipoprotein lipase in thai primary hyperlipoproteinemias.

作者信息

Tirawanchai N, Dulyasukdi B, Likidlilid A, Pongrapeeporn K U, Poldee S, Amornrattana A

机构信息

Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.

出版信息

J Med Assoc Thai. 2000 Nov;83 Suppl 2:S19-27.

Abstract

Lipoprotein lipase (LPL) plays a central role in the clearance of very low density lipoprotein (VLDL) and chylomicrons from the circulation. It also affects the maturation of high density lipoprotein (HDL) and low density lipoprotein (LDL). LPL is an important candidate gene in determining the risk factor in metabolic disorders including primary hyperlipidemia. Our study is the first report from Thailand on the characterization of two common DNA polymorphisms, i.e Pvu II and Hind III at introns 6 and 8, respectively of the LPL gene in 94 Thai dyslipidemic subjects compared to 32 normolipidemic subjects using PCR-RFLP. It was observed that the frequencies of the cut and uncut alleles of Pvu II were 0.67 and 0.33 in normolipidemic subjects. Such frequencies were 0.64 and 0.36 in hyperlipidemic subjects. Additionally, the frequencies of the cut and uncut alleles of Hind III were found to be 0.73 and 0.27 in normolipidemic subjects. They were 0.85 and 0.15 in hyperlipidemic subjects. The allele frequencies of the Hind III but not Pvu II polymorphism in hyperlipidemic subjects were significantly different from normolipidemic subjects (p<0.05). The relation between these polymorphisms and lipid traits was not statistically significant (p>0.05).

摘要

脂蛋白脂肪酶(LPL)在从循环中清除极低密度脂蛋白(VLDL)和乳糜微粒方面起着核心作用。它还影响高密度脂蛋白(HDL)和低密度脂蛋白(LDL)的成熟。LPL是确定包括原发性高脂血症在内的代谢紊乱风险因素的重要候选基因。我们的研究是泰国首次报告,利用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术,对94名泰国血脂异常患者和32名血脂正常患者的LPL基因第6和第8内含子中分别存在的两种常见DNA多态性,即Pvu II和Hind III进行特征分析。结果观察到,血脂正常患者中Pvu II酶切和未酶切等位基因的频率分别为0.67和0.33。高脂血症患者中的此类频率分别为0.64和0.36。此外,血脂正常患者中Hind III酶切和未酶切等位基因的频率分别为0.73和0.27。高脂血症患者中的频率分别为0.85和0.15。高脂血症患者中Hind III多态性而非Pvu II多态性的等位基因频率与血脂正常患者有显著差异(p<0.05)。这些多态性与血脂特征之间的关系无统计学意义(p>0.05)。

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