聚合酶链反应检测载脂蛋白E表型及其临床应用的研究

用人工合成的寡核苷酸引物，进行聚合酶链反应（ＰＣＲ），体外扩增合成载脂蛋白Ｅ（ＡｐｏＥ）基因的特异性ＤＮＡ片段，用此引物检测１０４例健康成人和３５例冠心病人（ＣＨＤ）载脂蛋白Ｅ（ＡｐｏＥ）的表型，共检出５种常见的ＡｐｏＥ表型，健康成人与ＣＨＤ患者比较，ＣＨＤ患者的ＡｐｏＥ３／３型频率明显降低，而含Ｅ２或Ｅ４异构体的频率增加．等位基因频率分布，ＣＨＤ患考与健康成人比较，其ε明显减少，而ε２和ε４有升高趋势，故对人群进行ＡｐｏＥ表型普查，确定不同ＡｐｏＥ表型个体，并寻找其与脂类代谢之间的关系，在动脉粥样硬化（ＡＳ）和ＣＨＤ的防治中有重要意义．

Apolipoprotein E Phenotypes Determined by Polymerase Chain Reaction and Its Clinical Application

A human apolipoprotein E(ApoE)genotypes were determined by polymerase chain reaction(PCR)with3'-terminal basepair mismatches synthetidc allele-specific oligonucleotide primers.With this method we detected 104 healthy normolipid subhects and found that Apo E3/3 was with 71.2%,Apo E3/4 with 12.5%;Apo E2/3 with 14.4%;Apo E2/2 with 0.95%,In comparison with traditional isoelectric focusing(IEF),we detected Apo E phenotypes in 36 healthy subects with these two methods at the same time and got the same results.Detecting Apo E genotype with PCR is suggested as a quick,sensitive and highspecific method.