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目的：探讨中国汉族人ＡｐｏＡＩ基因变异特点及其与血脂水平的关系。方法：应用ＰＣＲ技术对北京地区４５０名汉族人的载脂蛋白ＡＩ基因启动子（ＭｓｐＩ１，－７５ｂｐ）及第一内含子（ＭｓｐＩ２，＋８３ｂｐ）两个ＭｓｐＩ限制性片段长度多态性进行分析。结果：北京汉族人群ＡｐｏＡＩ基因ＭｓｐＩ１多态性以Ｍ１＋＋和Ｍ１＋－为主要基因型，Ｍ１－等位基因少见其频率为０２５９，男性显著低于女性（０２２０∶０２９４，Ｐ＜００５）；北京汉族人群中少见的Ｍ１－等位基因频率显著高于文献报道的欧美白种人。汉族人具有Ｍ１－－、Ｍ１＋－基因型者与Ｍ１＋＋基因型者比较，血清总胆固醇、甘油三酯水平显著降低（均为Ｐ＜００１）。ＡｐｏＡＩ基因ＭｓｐＩ２位点大多数为Ｍ２＋＋基因型，Ｍ２－等位基因频率仅为００５８，与其他人种比较未见明显差异；ＭｓｐＩ２多态性对各血脂变量影响不明显。结论：１北京地区汉族人的ＡｐｏＡＩ基因ＭｓｐＩ１多态性频率分布于性别间存在差异，与欧美白种人有明显差异；推测Ｍ１－等位基因对血清总胆固醇和甘油三酯水平降低可能有一定影响；２ＭｓｐＩ２多态性与其他人种间未见明显差异，其对各血脂变量影响不明显。
Objective: To investigate the characteristics of ApoAI gene variation in Chinese Han population and its relationship with serum lipid levels. Methods: Two MspI restriction fragment length polymorphisms of apolipoprotein AI gene promoter (MspI1, -75bp) and the first intron (MspI2, + 83bp) were detected in 450 Han Chinese population in Beijing by PCR. Results: The MspI1 polymorphism of ApoAI gene in Beijing Han population was mainly characterized by M1 + + and M1 + -, M1- allele was less common in women than in women (0220: 0.94, P < 005). The frequency of M1-alleles rare in Beijing Han population was significantly higher than that reported by European and American whites in the literature. Han people with M1 -, M1 + - genotypes and M1 + + genotypes, serum total cholesterol and triglyceride levels were significantly lower (both P <0 01). The majority of MspI2 loci of ApoAI gene were M2 + + genotypes, and the M2-allele frequency was only 0.058, showing no significant difference compared with other species. MspI2 polymorphism had no significant effect on the blood lipid variables. The frequency of MspI1 polymorphism in ApoAI gene of Han nationality in Beijing area is different from that of white people in Europe and the United States. It is speculated that there may be a decrease of serum total cholesterol and triglyceride level in M1-allele A certain influence; 2 MspI2 polymorphism and other inter-species no significant difference, its effect on the lipid variables is not obvious.