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目的 :本文旨在研究高脂血症患者载脂蛋白B基因 3 VNTR大等位基因的频率分布和内部结构 ,及其多态性与血脂水平的相关性。方法 :随机抽取 2 0 0 1 2 0 0 2年间北京地区汉族人群高脂血症患者 30 0例 ,正常对照 30 0例 ,从高脂血症患者中选取携带apoB基因 3 VNTR大等位基因重复数≥ 4 0 (HVE≥4 0 )的患者 4 4例为高脂血症组 ,从正常对照中选取携带apoB基因 3 VNTR大等位基因重复数≥ 4 0(HVE≥ 4 0 )的血脂正常对照 33例为对照组 ,共 77例。采用PCR、琼脂糖凝胶电泳等方法分析apo B3 VNTR大等位基因 (HVE≥ 4 0 )多态性 ,并测序分析其中部分等位基因的内部序列结构。结果 :(1)高脂血症组apoB 3 VNTR等位基因HVE5 0频率最高 (2 3 5 % ) ,而对照组以HVE4 2频率最多 (2 3 8% )。(2 )血甘油三酯、血apoB、LDL水平越高 ,其 3 VNTR等位基因长度越大的趋势 ,而与血TC无相关性。结论 :(1)apoB基因 3 VNTR大等位基因 /大基因型与血甘油三酯、总胆固醇、血apoB增高相关联 ,提示 3 VNTR大等位基因 /大基因型可能是高脂血症的易感基因标志物。 (2 )apoB基因 3 VNTR多态性可能是影响血脂水平差异的遗传因素之一
OBJECTIVE: This study aimed to investigate the frequency distribution and internal structure of the major allele of 3 VNTR in patients with hyperlipidemia and its association with plasma lipids. Methods: 30 cases of hyperlipidemia and 200 cases of hyperlipidemia in Beijing Han nationality population were randomly selected in this study. The hyperpolamic patients were selected to carry large alleles of apoB gene 3 VNTR Forty four patients (≥ 4 0) with HVE ≥ 40 had hyperlipidemia and were selected from normal controls for hyperlipidemia with a repeat number ≥40 (apoB = 3 VNTR) Control 33 cases for the control group, a total of 77 cases. The apo B3 VNTR large allele (HVE ≥ 40) polymorphism was analyzed by PCR and agarose gel electrophoresis, and the internal sequence structure of some alleles was analyzed by sequencing. Results: (1) The frequency of apoB3 VNTR allele HVE5 0 in hyperlipidemic group was the highest (23.5%), while the control group had the highest frequency of HVE4 2 (23.8%). (2) The higher the triglyceride, blood apoB, LDL levels, the greater the 3 VNTR allele length trend, but no correlation with blood TC. Conclusions: (1) The large allele / genotype of a VNTR 3 VNTR is associated with elevated triglycerides, total cholesterol, and apoB in blood, suggesting that the large allele / genotype of 3 VNTR may be hyperlipidemia Susceptible genetic markers. (2) 3 VNTR polymorphism of apoB gene may be one of the genetic factors influencing the difference of blood lipid level