Balanya J, Marsal S, La Ville A, Vilella E, Turner P R, Masana L
Unitat de Recerca de Lípids, Hospital de Sant Joan, Facultat de Medicina, Universitat de Barcelona, Reus, Tarragona.
Med Clin (Barc). 1990 Mar 31;94(12):448-50.
The apoprotein B gene restriction fragment length polymorphism are studied using the endonuclease XbaI, and the pAB3.5C probe was studied in 128 healthy males aged 20-62 years (39.2 +/- 7.6). The genotypic prevalence was X1X1 26.6%; X1X2 47.7% and X2X2 25.7%. The allelic frequency was 50.3% X1 and 49.7 for X2. No differences in prevalence were observed related to age or body mass index. The genotype X2X2 was statistically associated with a 10% increase in total plasma cholesterol, LDL cholesterol and LDL Apo B levels (p less than 0.05). Up to 6% of the total plasma cholesterol levels were dependent on X2X2 genotype as shown by multivariate regression analysis. The X2X2 genotype may be a candidate marker in assessing increased risk for coronary heart disease.
利用内切酶XbaI研究载脂蛋白B基因限制性片段长度多态性，并使用pAB3.5C探针，对128名年龄在20 - 62岁（平均39.2±7.6岁）的健康男性进行研究。基因型患病率为：X1X1 26.6%；X1X2 47.7%；X2X2 25.7%。等位基因频率为：X1 50.3%，X2 49.7%。未观察到患病率与年龄或体重指数有关的差异。基因型X2X2与总血浆胆固醇、低密度脂蛋白胆固醇和低密度脂蛋白载脂蛋白B水平升高10%具有统计学相关性（p<0.05）。多变量回归分析显示，高达6%的总血浆胆固醇水平取决于X2X2基因型。X2X2基因型可能是评估冠心病风险增加的候选标志物。
