【摘要】 目的　观察低密度脂蛋白受体 (LDL R)基因AvaⅡ多态性在上海市社区对照人群、高血压人群中的分布 ,进一步探讨其与血脂变量的关系。方法　运用聚合酶链反应 限制性片段长度多态性技术检测了 42 8例个体 ,其中健康对照组 1 0 9名 ,高血压组 31 9例。结果　发现LDL R基因型有 3种 ,即 (+ +)型、(+ - )型、(- - )型。对照组 3种基因型构成分别为 0 .9%、2 7.5 %、71 .6 % ;(+)等位基因频率为 1 4 .7% ,(- )等位基因频率为 85 .3 %。高血压组 3种基因型构成分别为 1 .2 %、33 .9%、64 .9% ;(+)等位基因频率为 1 8.2 % ,(- )等位基因频率为 81 .8%。两组合计社区人群 3种基因型构成分别为 1 .2 %、32 .2 %、66 .6 % ;(+)等位基因频率为 1 7.3 % ,(- )等位基因频率为 82 .7%。(+)等位基因频率均低于白种人群频率 43 %。社区人群与高血压组 ,男性胆固醇 (TC)、低密度脂蛋白胆固醇 (LDL C)水平在LDL R基因型间差异均有显著性 ,(+ - )基因型显著高于 (- - )基因型(P >0 .0 5)。女性及对照组中虽有相同趋势 ,但未达统计学显著水平。结论　LDL R基因AvaⅡ多态性 (+)等位基因和高TC、高LDL C水平有关 ,(- )等位基因和低TC、低LDL C水平有关。社区人群中与较低TC和LDL C水平有关的 (- )等位基因频率高于西方国家。更多还原

【Abstract】 Objective To investigate the AvaⅡ polymorphism of low density lipoprotein receptor gene in both health and essential hypertension populations, and to evaluate the association of AvaⅡ polymorphism with level of blood lipid. Methods Using polymerase chain reaction (PCR), AvaⅡ polymorphism was studied in 109 health individuals and 319 patients with essential hypertension. Results There were three kinds of genotype:(+/+),(+/-),(-/-). The frequencies of the three genotypes were shown as follows:(+/+) 0.9 %,(+/-) 27.5 %,(-/-) 71.6 % in health population and (+/+) 1.2 %,(+/-) 33.9 %,(-/-) 64.9 % in essential hypertension population, respectively. The frequencies of the two alleles were shown as follows: (+) 14.7 %, (-) 85.3 % in health population, (+) 18.2 %, (-) 81.8 % in essential hypertension population and (+) 17.3 %, (-) 82.7 % in the community, respectively. In male essential hypertension cases, the genotypes were associated with serum TC and LDL C level in the following order: (-/-)<(+/-) ( P < 0.05 ). In women and healthy population, there was a similar trend but not statistically significant ( P > 0.05 ). Conclusions A significant association was found between the common variation of LDL R gene and serum TC and LDL C levels. (+) Allele was associated with elevated level of serum TC and LDL C, but (-) allele was associated with a low level of serum TC and LDL C. The frequencies of (-) allele in both group were related to serum low level TC while LDL C was much higher than that reported in the western countries. These data indicated that genetic factors which resistant to hypercholesterolemia in Chinese people were different from those findings in West while might be one of the reasons to explain why that serum TC level in Chinese was lower than people in the western countries.更多还原