载脂蛋白AⅠ－CⅢ基因区域DNA多态性与动脉硬化性脑梗塞关系的研究

DNA POLYMOPHISMS AND HAPLOTYPES IN THE ApoA Ⅰ-CⅢ GENE REGION AND ATHEROTHROMBOTIC BRAIN INFARCTION

为探讨载脂蛋白ＡＩ－ＣⅢ基因区域ＤＮＡ多态性与动脉硬化性脑梗塞的关系，作者利用重组ＤＮＡ技术，对５９名正常血脂汉族个体和４４名动脉硬化性脑梗塞（ＡＢＩ）患者载脂蛋白ＡＩ－ＣⅢ基因区域ＤＮＡ多态频率和特征进行了分析，发现Ｓ２和Ｍ２２种多态性片段，正常人群等位基因频率为０．１５７和０．１９５，而在ＡＢＩ患者中分别为０．３６４和０．４８９．经统计学处理两组有显著性差异，提示Ｓ２和Ｍ２与ＡＢＩ发生有关。单体型分析表明，动脉硬化性脑梗塞患者Ｓ１－Ｍ２单体型频率（０．１２５）明显高于正常血脂人（０．０２９），两组有显著统计学差异，提示Ｓ１－Ｍ２单体型可作为一种遗传标记，有可能在中国人群中预测某些与脂类代谢障碍有关的疾病。

Polymorphisms and haplotypes identified by DNA restriction fragment length polymorphisms in the Apo A Ⅰ-CⅢ gene region were investigated in 44 Chinese patients with atherothrombotic brain infarction and 59 unrelated healthy subjects by using genomic DNA hybridization analysis with a 1.0 kb fragment probe of cDNA of the human Apo A I gene,The frequencies of the S2 and M2 alleles were 0.157 and 0.195 in healthy subjects,0.364 and 0.489 in patients respectively.There were statistically significant differences in the frequencies of the S2 and M2 alleles between patients and subjects(S2,X2=6.23,df=1,P<0.025;M2,X2=13.17,df=1,P<0.001);These results suggested that S2 and M2 alleles should be associated with atherothrombotic brain infarction.The percentage of individuals with the haplotype S1-M2 in patients were significantly increased compared with that of the healthy subjects(25% versus 5.9%;X2=6.87,df=1,P<0.01).The results of the polymorphisms may be a useful genetic marker for the analysis of Apo AⅠ-CⅢ gene complex and the haplotype S1-M2 may be a useful linkage marker for the putative atherogenic gene in Chinese population.