汉族人群载脂蛋白(a)五核苷酸重复序列基因多态性对血脂水平的影响

目的:了解健康湖北汉族人群载脂蛋白(a)五核苷酸重复序列(pentanucleotiderepeat,PNR)基因多态性并分析其对血清脂质的影响。方法:随机选取153例健康湖北汉族受试者,测定其血清胆固醇(TC)、甘油三酯(TG)、高密度脂蛋白胆固醇(HDL-C)、低密度脂蛋白胆固醇(LDL-C),载脂蛋白AI(apoAⅠ)、载脂蛋白B(apoB)及脂蛋白(a)的浓度,并采用PCR-SSCP的方法检测载脂蛋白(a)PNR基因多态性,计算各等位基因的分布频率。结果:我国汉族人群apo(a)PNR等位基因频率分布与欧美人群有显著性差异,apo(a)PNR(TTTTA)5等位基因与高Lp(a)水平相关,apo(a)PNR等位基因变异对TC、TG、HDL-C、LDL-C、ApoAI和ApoB无明显影响。结论:本研究获得了湖北健康汉族人群的血脂及apo(a)PNR等位基因分布的资料,apo(a)PNR(TTTTA)5等位基因与汉族人群高Lp(a)水平有关。

Effects of a pentanucleofide repeat polymorphism of the apolipoprotein (a) gene on serum levels of lipoproteins in healthy Han population

AIM: To understand the relationship between pentanucleotide repeat(PNR) polymorphism of the apolipoprotein(a) gene and lipoprotein natures of normal Han population. METHODS: The serum levels of TG, TC, LDL-C,HDL-C, apo AI, apo B and Lp(a) were measured and the polymorphism of the apo(a) PNR was studied by using PCR-SSCP in 153 random normal individuals in Hubei Han population respectively. RESULTS: The relative frequencies of apo(a) PNR allele were significantly different from western population. The apo(a) gene which copy number of PNR is 5 was associated with high Lp(a) levels. No marked differences in the levels of TG, TC,LDL-C, HDL-C, apo AI and apo B were found among the various genotype groups of apo(a) PNR in Hubei Han. CONCLUSION: The data of lipids and PNR polymorphism of the apo(a) gene from healthy Hubei Han were obtained. The apo(a) allele with 5(TTTTA)-repeats may be related to high serum Lp(a) levels in the Hubei Han population.