Tsukamoto K, Watanabe T, Matsushima T, Kinoshita M, Kato H, Hashimoto Y, Kurokawa K, Teramoto T
First Department of Internal Medicine, Faculty of Medicine, University of Tokyo, Japan.
J Lab Clin Med. 1993 Apr;121(4):598-602.
We analyzed apolipoprotein E (apo E) genotypes of 104 randomly sampled Japanese subjects by using the polymerase chain reaction-restriction fragment length polymorphism method in which the apo E genomic DNA was amplified between bases 2849 and 3071. We compared the results thus obtained with their corresponding phenotypes assessed by isoelectric focusing (IEF). The overall frequencies of the genotypes were as follows: epsilon 2:2.4%, epsilon 3:86.5%, and epsilon 4:11.1%, which are essentially identical to those previously reported when the IEF method has been used. The phenotypes and genotypes were identical in all but five cases. We could not determine the phenotypes of four cases by IEF because of an atypical IEF pattern presumably caused by sialylation. In one other case the phenotype initially did not correlate with its genotype but eventually did after neuraminidase treatment. These results indicate that apo E polymorphism of most Japanese people can be determined by analyzing the apo E genome between bases 2849 and 3071.
我们采用聚合酶链反应-限制性片段长度多态性方法，对104名随机抽取的日本受试者的载脂蛋白E（apo E）基因型进行了分析，该方法中apo E基因组DNA在碱基2849和3071之间进行扩增。我们将由此获得的结果与其通过等电聚焦（IEF）评估的相应表型进行了比较。基因型的总体频率如下：ε2：2.4%，ε3：86.5%，ε4：11.1%，这与之前使用IEF方法时报告的结果基本相同。除了五例之外，所有病例的表型和基因型均一致。由于推测由唾液酸化导致的非典型IEF模式，我们无法通过IEF确定四例的表型。在另一例中，表型最初与其基因型不相关，但在神经氨酸酶处理后最终相关。这些结果表明，大多数日本人的apo E多态性可以通过分析碱基2849和3071之间的apo E基因组来确定。
