Berg K, Kondo I, Drayna D, Lawn R
Institute of Medical Genetics, University of Oslo, Norway.
Clin Genet. 1990 Jun;37(6):473-80. doi: 10.1111/j.1399-0004.1990.tb03533.x.
A restriction site polymorphism in the Lp(a) apolipoprotein gene (the LPA gene) is reported. The basis for the polymorphism is presence or absence of an MspI restriction site that appears to be 3' to the last kringle IV structure of the gene. The "1" gene (presence of the restriction site) has a frequency of 0.316 and the "2" gene (absence of the restriction site) has a frequency of 0.684. Both members of each of 67 monozygotic (MZ) twin pairs had the same genotype and there was Mendelian segregation of the DNA variants in 40 families with a total of 75 children. There was a lower proportion of people with genotype 1-1 in the top quartile than in the 3 bottom quartiles of the population distribution of Lp(a) lipoprotein levels but the difference did not reach statistical significance.
据报道，载脂蛋白(a)基因（LPA基因）存在一个限制性酶切位点多态性。该多态性的基础是一个MspI限制性酶切位点的存在与否，该位点似乎位于基因最后一个kringle IV结构的3'端。“1”基因（存在限制性酶切位点）的频率为0.316，“2”基因（不存在限制性酶切位点）的频率为0.684。67对同卵（MZ）双胞胎的双方均具有相同的基因型，并且在40个共有75名子女的家庭中，DNA变异呈现孟德尔分离现象。在Lp(a)脂蛋白水平人群分布的上四分位数中，基因型1-1的人群比例低于下三个四分位数，但差异未达到统计学显著性。
