汉族人群载脂蛋白(a)五核苷酸重复序列基因多态性与动脉硬化性脑梗死的关系

Relationship between pentanucleotide repeat polymorphism of apolipoprotein(a)gene and atherosclerosis cerebral infarction in Han Nationality

目的 研究载脂蛋白 (a) [Apo(a) ]五核苷酸重复序列 (PNR)基因多态性与动脉硬化性脑梗死 (ABI)的关系。方法 1998年 3～ 12月收治的ABI患者 82例 ,男 5 4例 ,女 2 8例 ,平均年龄 6 8岁。健康对照组 15 3名 ,男 86名 ,女 6 7名 ,平均年龄 6 2岁。分别检测血清脂蛋白A [Lp(a) ]、总胆固醇 (TC)、高密度脂蛋白胆固醇 (HDL C)、低密度脂蛋白胆固醇 (LDL C)、甘油三酯 (TG)、载脂蛋白AⅠ(ApoAⅠ )及载脂蛋白B(ApoB)水平。同时采用聚合酶链反应结合高压聚丙烯酰胺凝胶电泳检测Apo(a) 5′调控区五核苷酸重复序列基因的多态性 ,并加以对照分析。结果 ABI患者Lp(a) [(2 40±2 2 5 )mg/L]、TC[(4.7± 0 .7)mmol/L]、TG[(1.7± 0 .6 )mmol/L]和LDL C[(2 .8± 0 .6 )mmol/L]水平明显高于对照组 [(134± 98)mg/L、(4.3± 0 .7)mmol/L、(1.1± 0 .5 )mmol/L和 (2 .8± 0 .6 )mmol/L],HDL C水平 [(0 .9± 0 .2 )mmol/L]明显低于对照组 [(1.0± 0 .4)mmol/L];两组ApoAⅠ [(1.1± 0 .2 )mmol/L ,(1.2± 0 .2 )mmol/L]、ApoB[(0 .9± 0 .1)mmol/L ,(0 .9± 0 .2 )mmol/L]比较 ,差异无显著意义 ;ABI组中重复序列数为 5的等位基因频率 (0 .0 98)明显高于正常对照组 (0 .0 2 6 ) ,重复序列数为 9的等位基因频率 (0 .0 73)

Objective To elucidate the relationship between a pentanuclotide repeats (PNR) polymorphism of the apolipoprotein(a) gene and atherosclerosis cerebral infarction(ABI). Methods Objects examined were composed of two groups: 82 patient with atherosclerosis cerebral infarction and 153 healthy controls. Two groups of Lp(a), TC,TG, HDL c. LDL C, ApoA Ⅰ and ApoB of two groups were tested. The PNR in 5′ control region of the Apo(a) was detected by using polymerase chain reaction (PCR) and high voltage polyacrylamid gels electropherosis. Results The serum Lp(a), TC, TG and LDL C levels were markadly higher in ABI than in controls ( P <0.01), and HDL c level markadly lower in ABI than in controls, while ApoA Ⅰ and ApoB levels weren′t signifcantly different;the allele frequency of in ABI with 5 repeats was remarkably higher than that in control, the frequency in ABI with 9 repeats was remarkably lower than that in control; and the allele frequency with 5 repeats was associated with low TC and high Lp(a) levels. Conclusion The study suggested that the PNR polymorphism of Apo(a) is associated with the susceptibility to ABI,which may be involved in the development of ABI.