Klasen E C, Talmud P J, Havekes L, de Wit E, van der Kooij-Meijs E, Smit M, Hansson G, Humphries S E
Hum Genet. 1987 Mar;75(3):244-7. doi: 10.1007/BF00281067.
We report a common DNA polymorphism of the apolipoprotein E (apoE) gene detected with the enzyme HpaI. In an individual who is heterozygous for the polymorphism, two hybridising fragments of DNA, one of 50 kb (the H1 allele) and one of 20 kb (the H2 allele) are detected. In 54 controls the frequency of the rare allele is 0.38 (PIC value 0.36). We have also studied the frequency of the polymorphism in normolipidaemic and hyperlipidaemic individuals whose apo E protein typing is known. In 39 individuals with type III hyperlipidaemia and the apo E phenotype E2E2, the frequency of the H2 allele is 0.97. In contrast, the frequency of the H2 allele in normolipidaemic individuals with the E2E2 phenotype is closer to that found in the general population. Possible explanations for this are discussed.
我们报告了一种通过HpaI酶检测到的载脂蛋白E（apoE）基因常见DNA多态性。在该多态性的杂合个体中，可检测到两条DNA杂交片段，一条50kb（H1等位基因），一条20kb（H2等位基因）。在54名对照者中，罕见等位基因的频率为0.38（PIC值0.36）。我们还研究了载脂蛋白E蛋白分型已知的血脂正常和血脂异常个体中该多态性的频率。在39名患有III型高脂血症且载脂蛋白E表型为E2E2的个体中，H2等位基因的频率为0.97。相比之下，具有E2E2表型的血脂正常个体中H2等位基因的频率更接近一般人群中的频率。对此的可能解释进行了讨论。
