Kessling A M, Berg K, Mockleby E, Humphries S E
Clin Genet. 1986 Jun;29(6):485-90. doi: 10.1111/j.1399-0004.1986.tb00548.x.
We have investigated the allele frequencies, in a Norwegian population, of two restriction fragment length polymorphisms (RFLPs) in the apolipoprotein (apo) AI-CIII-AIV gene region. The study group consisted of clinically well twins and their unrelated spouses. In the normotriglyceridaemic individuals tested, the frequency of the rare allele (S2) of the RFLP detected using the restriction enzyme Sst I was 0.17; for the RFLP detected with the enzyme Xmn I, the rare allele (X2) frequency was 0.06. The frequency of the S2 allele was lower in individuals with serum triglyceride levels above 1.7 mmol l-1, but this was not statistically significant. Conversely, the frequency of the X2 allele was higher in individuals with raised serum triglyceride levels, but similarly, did not reach statistical significance. Taken together with the data from our previous study on UK individuals, these results support the suggestion that inherited variations in this apolipoprotein gene cluster are involved in the determination of serum triglyceride levels.
我们在挪威人群中研究了载脂蛋白（apo）AI-CIII-AIV基因区域的两种限制性片段长度多态性（RFLP）的等位基因频率。研究组由临床健康的双胞胎及其无血缘关系的配偶组成。在接受检测的正常甘油三酯血症个体中，使用限制性内切酶Sst I检测到的RFLP的罕见等位基因（S2）频率为0.17；对于用酶Xmn I检测到的RFLP，罕见等位基因（X2）频率为0.06。血清甘油三酯水平高于1.7 mmol l-1的个体中S2等位基因的频率较低，但这在统计学上不显著。相反，血清甘油三酯水平升高的个体中X2等位基因的频率较高，但同样未达到统计学显著性。结合我们之前对英国个体的研究数据，这些结果支持了这样的观点，即该载脂蛋白基因簇的遗传变异参与了血清甘油三酯水平的决定。
