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胆固醇酯转运蛋白基因373 Ala→Pro和451 Arg→Gln的突变频率及其对脂质代谢的影响 被引量:2

Allele Frequencies of Mutations 373 Ala→Pro and 451 Arg→Gln in Cholesterol Ester Transfer Protein Gene and Their Influences on Lipid Metabolism
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摘要 为了进一步探讨胆固醇酯转运蛋白基因突变373 Ala → Pro 和451 Arg → Gln 的频率及其对血脂代谢的影响,采用致突变分离聚合酶链反应技术,检测了91 例健康德国大学生和409 例冠心病患者在胆固醇酯转运蛋白基因第373 和第451 位密码子的基因型,并对照测定其血脂参数。结果表明,373 Ala → Pro 和451 Arg → Gln 等位基因频率为3 % ~5 % ,在绝大多数受检者中联合出现,但尚存二者的不完全连锁性;在健康志愿者和冠心病患者中两个突变的杂合子与野生型比较均呈现血清高密度脂蛋白胆固醇水平的降低( P< 0 .05) ,健康志愿者的杂合子还显示出甘油三酯的升高( P< 0 .05) 。从而提示373 Ala → Pro 和451 Arg→ Gln 为频发误义突变,其在健康志愿者和冠心病患者中的携带者可表现为血清高密度脂蛋白胆固醇水平的降低和甘油三酯水平的升高。 Aim To determine the allele frequencies of genetic variants 373 Ala→Pro and 451 Arg→Gln of cholesteryl ester transfer protein (CETP) and to explore their potential impacts on serum lipid metabolism. Methods The genotypes in CETP codon 373 and 451 in 91 German healthy students and 409 angiographically confirmed coronary heart disease (CHD) patients were respectively analyzed using the allele specific technique of mutagenically separated polymerase chain reaction (MS-PCR) and their serum lipid parameters were determined.Results It is demonstrated that genetic variants 373 Ala→Pro and 451 Arg→Gln are frequent mutations with allele frequencies around 3% to 5% presented in the healthy individuals as well as in the CHD patients. The high density lipoprotein cholesterol (HDLC) level was significantly decreased in the 373-Pro and 451-Gln alleles heterozygotic carriers in both examined cohorts compared with those in the wild type individuals. The increasing of serum triglyceride (TG) in the mutant alleles carriers was only observed in the healthy volunteers. It was also found that these two genetic variants do not always emerge in the linkage form. Conclusion It is suggested that these two mutations together would possess the phenotype of decreasing HDLC and increasing TG levels.
出处 《中国动脉硬化杂志》 CAS CSCD 1999年第3期208-211,共4页 Chinese Journal of Arteriosclerosis
关键词 胆固醇酯 转运蛋白 基因频率 脂质代谢 Cholesterol Esters Transfer Proteins Gene Frequency Mutation 373 Ala 451 Arg Lipoprotein HDL Triglyceride
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