健康人群中载脂蛋白A-I基因的多态性（限制性片段长度多态性-PstI）及其与高密度脂蛋白的关系

[Polymorphism (RFLP-PstI) of the apoprotein A-I gene in a healthy population. Its relation to high-density lipoproteins].

作者信息

Balanyà J, Marsal S, LaVille A, Margalef J, Turner P R, Masana L

机构信息

Unitat de Recerca de Lípids i Arteriosclerosi, Hospital de Sant Joan, Reus, Tarragona.

出版信息

Med Clin (Barc). 1993 Jan 23;100(3):90-3.

PMID:8093913

Abstract

BACKGROUND

Some RFLPs for the genes encoding for apoproteins have been associated with dyslipidemia and the predisposition to atherosclerosis. It is of interest to investigate the apo A-I gene in a Mediterranean population, since it is the major protein in HDL.

METHODS

We studied the A-I C-III A-IV gene cluster RFLP defined by the endonuclease Pst I in 149 healthy males randomly selected among industrial workers in Tarragona. The mean age was 40 +/- 7 years (range 20 to 62). We analysed cholesterol and triglycerides in plasma and the lipoprotein fractions (VLDL, IDL, LDL and HDL) obtained by ultracentrifugation. The RFLP was determined for the enzyme Pst I in the A-I C-III A-IV gene cluster by the Southern blotting method.

RESULTS

The genotype distribution was P1P1 81.9%, P1P2 14.8% and P2P2 3.4% and the allelic frequency was P1 89.3% and P2 10.7%. The plasma cholesterol, triglycerides, apo A-I and apo B did not show significant differences between these groups. The P2P2 subjects had lower HDL-C values (P1P1 1.17 +/- 0.39 mmol/l, P1P2 1.16 +/- 0.28 mmol/l y P2P2 0.89 +/- 0.14 mmol/l; p < 0.01).

CONCLUSIONS

The distribution of the genotypes in the Mediterranean population were similar to that observed in the USA and in Europe. P2P2 subjects had decreased HDL cholesterol but the low prevalence of the genotype being very low limits its value as a marker of coronary artery disease risk.

摘要

背景

一些载脂蛋白编码基因的限制性片段长度多态性（RFLP）与血脂异常及动脉粥样硬化易感性有关。鉴于载脂蛋白A-I是高密度脂蛋白（HDL）中的主要蛋白质，对地中海人群中的载脂蛋白A-I基因进行研究很有意义。

方法

我们在塔拉戈纳的产业工人中随机选取了149名健康男性，研究了由内切酶Pst I定义的A-I C-III A-IV基因簇RFLP。平均年龄为40±7岁（范围20至62岁）。我们分析了血浆中的胆固醇和甘油三酯以及通过超速离心获得的脂蛋白组分（极低密度脂蛋白、中间密度脂蛋白、低密度脂蛋白和高密度脂蛋白）。通过Southern印迹法测定A-I C-III A-IV基因簇中Pst I酶的RFLP。

结果

基因型分布为P1P1 81.9%，P1P2 14.8%，P2P2 3.4%，等位基因频率为P1 89.3%，P2 10.7%。这些组之间的血浆胆固醇、甘油三酯、载脂蛋白A-I和载脂蛋白B没有显著差异。P2P2受试者的高密度脂蛋白胆固醇（HDL-C）值较低（P1P1为1.17±0.39 mmol/l，P1P2为1.16±0.28 mmol/l，P2P2为0.89±0.14 mmol/l；p<0.01）。