Funke H, Klug J, Frossard P, Kowalski J, Reckwerth A, Assmann G
J Clin Chem Clin Biochem. 1987 Mar;25(3):131-4. doi: 10.1515/cclm.1987.25.3.131.
We report the existence of a Msp I restriction fragment length polymorphism in the first intron of the apolipoprotein A-I gene that is different from the one described by Seilhamer et al. (DNA 3, 309 (1984)). Size comparison of the newly discovered Msp I fragment with a restriction map of the apolipoprotein A-I gene revealed that most likely the cutting site at the 5'-end of the normally seen 673 bp fragment is lost giving rise to the observed 719 bp Msp I fragment. Based on analyses of 136 DNAs of healthy and non-related caucasians the allelic frequency was determined to be 0.06. The observed Msp I genotype frequencies are in Hardy-Weinberg equilibrium.
我们报告了载脂蛋白A-I基因第一个内含子中存在一种Msp I限制性片段长度多态性,它与Seilhamer等人(《DNA》3, 309 (1984))所描述的不同。将新发现的Msp I片段与载脂蛋白A-I基因的限制性图谱进行大小比较,结果显示,通常所见的673 bp片段5'端的切割位点很可能缺失,从而产生了观察到的719 bp Msp I片段。基于对136名健康且无亲缘关系的高加索人DNA的分析,确定等位基因频率为0.06。观察到的Msp I基因型频率处于哈迪-温伯格平衡。