Ye P, Chen B S, Wang S W
General Hospital, PLA Beijing.
Zhonghua Yi Xue Za Zhi. 1994 Jun;74(6):341-4, 389-90.
Insertion/deletion (Ins/Del) polymorphism of the apo B gene encoding signal peptide and its relation to coronary heart disease (CHD) and lipid trait were studied in 103 patients with CHD and 100 healthy individuals from Chinese Han nationality. The frequency of rare Del allele was 0.259, which was significantly lower than 0.34 in Caucasians (France), but higher than 0.16 in South Asian descents in UK. When the frequency distribution of the Ins/Del alleles was compared between CHD group and control group, the frequency of rare Del allele in the patient group was not apparently different from that in the control group (0.282 vs. 0.235, P > 0.05). As for the impact of the Ins/Del genotype on levels of lipid and apolipoprotein, the patients with at least one Del allele had significantly lower HDL-C level compared with those with only Ins allele in the CHD group (P < 0.01). Levels of other lipid parameters in each group were not obviously associated with the Ins/Del genotype. It is suggested that the Ins/Del polymorphism of the apo B signal peptide might be involved in lipid metabolism by an unidentified mechanism in some ethnic population. PCR is a useful method for distinguishing Ins/Del polymorphism of the apo B signal peptide.
对103例冠心病患者和100名中国汉族健康个体进行了载脂蛋白B基因编码信号肽的插入/缺失(Ins/Del)多态性及其与冠心病(CHD)和血脂性状关系的研究。罕见Del等位基因频率为0.259,显著低于高加索人(法国)的0.34,但高于英国南亚裔的0.16。比较冠心病组和对照组Ins/Del等位基因的频率分布,患者组罕见Del等位基因频率与对照组无明显差异(0.282对0.235,P>0.05)。至于Ins/Del基因型对脂质和载脂蛋白水平的影响,冠心病组中至少有一个Del等位基因的患者与仅含Ins等位基因的患者相比,HDL-C水平显著降低(P<0.01)。每组中其他脂质参数水平与Ins/Del基因型无明显关联。提示载脂蛋白B信号肽的Ins/Del多态性可能通过某种未知机制参与某些种族人群的脂质代谢。PCR是区分载脂蛋白B信号肽Ins/Del多态性的一种有用方法。