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采用基因特异性引物通过致突变分离聚合酶链反应( MS?PCR) 技术一步法检测胆固醇酯转运蛋白( CETP) 第405 位异亮氨酸(ILE) 和缬氨酸( VAL) 等位基因,从而对欧洲的德意志和意大利及亚洲的日本正常人群中CETP 变异体ILE405 VAL 基因型和表现型及其相互关系进行了对比研究.结果表明该CETP 基因变异体在德意志、意大利和日本人群中出现频率显著不同(0 .30 VS 0 .40 VS0 .51 ,P＜ 0 .01) ,但均与血清高密度脂蛋白?胆固醇( HDL?C) 的升高和甘油三酯( TG) 的降低密切相关,前者在德意志和意大利正常人群中十分显著( P＜ 0 .01) ,后者在日本人群中极为明显( P＜ 0 .05) .本研究提示欧亚不同人群CETP?405?VAL 等位基因频率的差异可能是其血清HDL?C 水平差异的原因之一“,”Objective:To carry out a comparative study on the mutual relationshipbetween the genotype and phenotype of the gentic variant of cholesteryl ester transfer protein(CETP) gene in German,Italian and Japanese populations.Methods:Special gene primers,the technique of mutagenically-separated polymerase chain reaction(MS-PCR) and one step method were used to detect the isoleucine(Ile) and valine(Val) alleles of the CETP gene in codon 405.Results:The mutant CETP-405-Val allele frequencies in German,Italian and Japanese populations were significantly different(0.30 vs 0.40 vs 0.51,p<0.01).However, in all three different populations this mutant allele was closely correlated with the increase of serum high-density lipoprotein-cholesterol(HDL-C) and the decrease of triglyceride(TG).The former was statistically different between German and Italian(P<0.01),and the latter was especially evident in Japanese individuals(P<0.05).Conclusions:The results suggest that the difference of CETP-405-Val allele frequencies between Europeans and Asians may be one of the probable genetic factors contributing to the race-based difference in HDL-C levels.