脑梗死患者载脂蛋白B基因3’端小卫星区多态性与血脂水平的关系
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The Study of Ministellite Region Polymorphisms at 3' End of Apolipoprotein B Gene in Atherosclerotic Cerebral Infarction
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    摘要:

    为探讨载脂蛋白B基因3’端小卫星区多态性与动脉粥样硬化性脑梗死的相关性。应用聚合酶链反应技术分析84名动脉粥样硬化性脑梗死患者及10 7名正常对照者。用特异寡核苷酸引物5’ATGGAAACGGAGAAATTTG 3’和5’CCTTCTCACTTGGCAAATAC 3’对外周血白细胞DNA基因组MSR扩增;聚丙烯酰胺凝胶电泳分离等位基因。结果发现,①两组载脂蛋白B基因3’端等位基因的分布频率均以MSR37和MSR39最高,其中动脉粥样硬化性脑梗死组分别为0 .48和0 .19;对照组分别为0 .5 0和0 .17。且动脉粥样硬化性脑梗死组的大拷贝等位基因分布频率增高。②组内及组间分析发现,大拷贝等位基因与血清胆固醇、载脂蛋白B和低密度脂蛋白胆固醇具有相关性。载脂蛋白B基因的第二转录终止信号的3’端存在具有长度多态性的随机重复核苷酸序列,其核心序列的长度为14~16bp ,由富含AT结构组成。这些片段随机重复量的差异而非核苷酸序列的不同构成了不同的等位基因。这种串联重复单位具有高信息特征。3’-端小卫星区等位基因是已知载脂蛋白B基因小等位基因的有用标记。此结果提示,大拷贝片段MSR等位基因与动脉粥样硬化性脑梗死有相关性,位于载脂蛋白B基因3’-端小卫星区等位基因多态性及病理过程中胶原暴露和内皮损伤共同参与动脉粥样硬化性脑梗死的发病机制。

    Abstract:

    Aim Atherosclerotic cerebral infarction (ACI) as agradually progressive atherosclerotic disorder has been thought be a hetero-ground and multifactor of environment, There are in different epidemiologic state. The relationship of ministellite region (MSR) polymorphisms at 3'-end of apolipoprotein B gene in Chinese ACI and healthy controls was observed. Methods The 3' hypervariableministellite region polymorphism of apolipoprotein B gene was examined by polymerase chain reaction technique in 84 patients with ACI and 107 age-matched Chinese healthy controls. The targeted ministellite region were amplified rapidly and accurately, and then identified oligonucleotide primer 5'-ATG GAA ACG GAG AAA TTTG-3',5'-CCT TCT CAC TTG GCA AAT AC-3' was used to the amplification of DNA genome which in peripheral leucocyte, number repeat unit (MSR) alleles detached by polyacrylamide gel electrophoresis (PAGE). Results ①The frequency distribution of apolipoprotion B 3'ministellite region alleles was in monomold peaks at 37, 39 repeat uints in both group(from MSR29 to MSR53), and the big number repeat unit (MSR39 is 18.5%, and P<0.02). ②The homozygote genotype of the big number repeat units alleles was related to the high level of apolipoprotein and LDL. The blood lipid parametes in differant zygote genotype of the small number repeat unit (MSRS, ≤MSR37) and big number repeat unit (MSRB, ≥MSR39 ) was cmparised (table 2), the homozygote big copied alleles (MSRB/MSRB) related to the increase of apo B and LDLC, There were same tandency in ACI and controls. Conclusions Our investigate resluts suggested the possibility that apolipoprotein B 3' gene ministellite region alleles polymorphism increase the susceptibility to atherosclerosis by means other than by altering lipoprotein levels deserves further consideration.

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张镛,秦震.脑梗死患者载脂蛋白B基因3’端小卫星区多态性与血脂水平的关系[J].中国动脉硬化杂志,2001,9(4):306~309.

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  • 收稿日期:2000-08-21
  • 最后修改日期:2001-04-19
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