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正常汉族人群载脂蛋白E基因多态性:频率及其对血脂参数的影响。

Apolipoprotein E polymorphism in normal Han Chinese population: frequency and effect on lipid parameters.

作者信息

Liang Shu, Pan Min, Geng Hai-Hua, Chen Hui, Gu Li-Qun, Qin Xiao-Tong, Qian Jin-Jun, Zhu Jian-Hua, Liu Chun-Feng

机构信息

Department of Neurology, Second Affiliated Hospital of Soochow University, 1055 Sanxiang Road, Suzhou, 215000, People's Republic of China.

出版信息

Mol Biol Rep. 2009 Jul;36(6):1251-6. doi: 10.1007/s11033-008-9305-5. Epub 2008 Jul 4.

Abstract

Apolipoprotein E (ApoE) genotypes were studied in order to determine the prevalence and effect on lipid parameters in normal Han Chinese population. Fragments of ApoE gene forth exon containing codon 112 and 158 polymorphic locus were amplified by PCR, and then digested with Cfo I endonuclease. Genotypes and alleles frequencies of 168 healthy Han Chinese were calculated. The frequency of genotypes epsilon3/3, epsilon3/4, and epsilon2/3 was found to be 75.00, 10.70, and 11.90%, respectively, and 0.60, 1.20, and 0.60% for epsilon2/2, epsilon2/4, and epsilon4/4. The effects of ApoE genotypes and alleles on lipid parameters were analyzed. The effects of ApoE alleles on TC, LDL-C, ApoB was: along a decreasing gradient epsilon4 > epsilon3 > epsilon2. The effect of epsilon4 allele was to increase serum levels of TC, LDL-C and ApoB, and epsilon2 allele had an effect opposite to that of epsilon4 allele. Results obtained in this study indicate that ApoE polymorphism is an independent genetic factor on individual serum levels of lipids and apolipoproteins.

摘要

为了确定正常汉族人群中载脂蛋白E(ApoE)基因型的患病率及其对血脂参数的影响,对其进行了研究。采用聚合酶链反应(PCR)扩增含第112和158位密码子多态性位点的ApoE基因第四外显子片段,然后用Cfo I内切酶进行消化。计算了168名健康汉族人的基因型和等位基因频率。结果发现,ε3/3、ε3/4和ε2/3基因型的频率分别为75.00%、10.70%和11.90%,而ε2/2、ε2/4和ε4/4基因型的频率分别为0.60%、1.20%和0.60%。分析了ApoE基因型和等位基因对血脂参数的影响。ApoE等位基因对总胆固醇(TC)、低密度脂蛋白胆固醇(LDL-C)、载脂蛋白B(ApoB)的影响为:呈递减梯度ε4>ε3>ε2。ε4等位基因可使血清TC、LDL-C和ApoB水平升高,而ε2等位基因的作用与ε4等位基因相反。本研究结果表明,ApoE基因多态性是影响个体血脂和载脂蛋白血清水平的独立遗传因素。

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