Kessling A M, Taylor R, Temple A, Hutson J, Hidalgo A, Humphries S E
Charing Cross Sunley Research Centre, Hammersmith, London, UK.
Hum Genet. 1988 Mar;78(3):237-9. doi: 10.1007/BF00291668.
We have used a 1.05-kb unique genomic fragment from the 5' end of the apolipoprotein (apo) CIII gene to identify a restriction fragment length polymorphism (RFLP) detected with the restriction enzyme PvuII, in the apoCIII-apoAIV intergenic region. In a sample of 220 normolipidaemic individuals from the UK population, the frequency of the rare allele, VB2 is 0.054. The PvuII polymorphism is in apparent linkage equilibrium with three other RFLPs of this gene cluster, detected with the restriction enzymes XmnI, PstI and SstI, but in linkage disequilibrium with an RFLP in the apo-CIII gene also detected with PvuII. Taken together, these five RFLPs have a PIC (polymorphism information content) value of 0.8, and therefore are informative for genetic studies. Individuals with the genotype VB1VB2 had lower mean concentrations of apoAI, and HDL-cholesterol than individuals with the genotype VB1VB1. However these differences were not statistically significant.
我们使用了载脂蛋白（apo）CIII基因5'端的一段1.05kb独特基因组片段，来鉴定在apoCIII - apoAIV基因间区域用限制性内切酶PvuII检测到的限制性片段长度多态性（RFLP）。在来自英国人群的220名血脂正常个体的样本中，罕见等位基因VB2的频率为0.054。PvuII多态性与用限制性内切酶XmnI、PstI和SstI检测到的该基因簇的其他三个RFLP处于明显的连锁平衡，但与同样用PvuII检测到的apo - CIII基因中的一个RFLP处于连锁不平衡。这五个RFLP的多态性信息含量（PIC）值为0.8，因此对基因研究具有信息价值。基因型为VB1VB2的个体比基因型为VB1VB1的个体的载脂蛋白AI和高密度脂蛋白胆固醇平均浓度更低。然而，这些差异无统计学意义。
