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目的探讨卵磷脂胆固醇酰基转移酶(lecithin-cholesterolacyltransferase,LCAT)的基因LCAT608C/T多态性在中国汉族人群中的分布及其与动脉粥样硬化性脑梗塞(atheroscleroticcerebralinfarction,ACI)的关联。方法应用聚合酶链反应、单链构象多态性技术联合限制性片段长度多态性技术检测150例ACI患者和122名年龄、性别相匹配的正常对照者的LCAT608C/T多态性。结果LCAT608C/T位点基因型分布在ACI和对照组均符合Hardy-Weinberg平衡定律。ACI组CT基因型频率(14·0%)、T等位基因频率(7.0%)均显著高于对照组(P<0.05)。ACI和对照组中608CC亚组HDL-C水平均高于同组内608CT亚组(P<0.05)。结论LCAT608C/T多态性可能为中国人群ACI易感因素,T等位基因可能与HDL-C代谢有关。
Objective To investigate the distribution of LCAT608C / T polymorphism of lecithin-cholesterolacyltransferase (LCAT) gene in Chinese Han population and its association with atherosclerotic cerebral infarction (ACI). Methods Polymerase chain reaction, single strand conformation polymorphism and restriction fragment length polymorphism were used to detect the LCAT608C / T polymorphism in 150 ACI patients and 122 age-matched and matched normal controls. Results LCAT608C / T locus genotype distribution in the ACI and control groups are in line with the Hardy-Weinberg equilibrium law. The CT genotype frequency (14.0%) and T allele frequency (7.0%) in ACI group were significantly higher than those in control group (P <0.05). The level of HDL-C in 608CC subgroup of ACI and control group was higher than that of 608CT subgroup in the same group (P <0.05). Conclusions LCAT608C / T polymorphism may be the predisposing factor of ACI in Chinese population, T allele may be related to HDL-C metabolism.