高脂血症患者载脂蛋白B基因3'VNTR大等位基因与血脂水平关系的研究

(The relationship betwne the big 3'VNTR allel of apolipoprotein B gene and the serum lipid level in the patient with hyperlipidemia

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

Objective： The aim of the study is （ 1 ） the correlationship between serum lipid variance and the lipid level （2）the effect of the polymorphism of apoB gene 3＇VNTR on the lipid level in the hyperlipidmia patients. Methods： the patient with hyperlipidemia are 300 cases, whose the case of HVE ≥ 40 are 44, the contral group include 300 cases, whose the case of HVE≥ 40 are 33.77 cases of apoB gene 3＇-varible number tandem repeats （3＇VNTR）polymorphism whose allele length over 40 （HVE≥40）am analysised by PER-gel elecrophoresis. Moreover, according to the serum lipid level, they are divided into the hyperlipidemia group and the control group. Results： （1）HVE50 is the most common in the hyperlipidemia （23.5 % ）, HVFA2 （23.8%）in the control group. （2）There is correlationship between that apoB gene 3＇VNTR polymorphism with the serum triglyeerides, eholesteral, apolipoprotein B, LDL. （3）Their allel eonstructures are anylasised, suggesting the differency in not only the allel numbers but also the allel constructrue causes this trend. Conclusion： （ 1 ） the 3＇VNTR polymorphism of apoB gene is correlated with the increased serum triglycerides, apolipoprotein and low density lipoprotein. Which suggesting HVE 〉 50 or HVE36-54/36-54 is the gene marker of hyperlipidemia. （2）the apoB gene 3＇VNTR polymorphism is one of the dangerous factors that effect the serum lipid variance.