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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。
To further investigate the frequency of cholesterol ester transporter gene mutations 373 Ala → Pro and 451 Arg → Gln and their effects on blood lipid metabolism, 91 healthy German students and 409 coronary heart disease patients were detected by using mutagenic isolation polymerase chain reaction Patients were genotyped at codon 373 and 451 of the cholesterol ester transporter gene and their lipid parameters were measured in the control. The results showed that the frequency of 373 Ala → Pro and 451 Arg → Gln alleles was 3% ~ 5%, which appeared in the majority of subjects, but there was incomplete linkage between the two. In healthy volunteers and Two mutant heterozygotes in patients with coronary artery disease showed a decrease in serum HDL-C levels (P <0. 05) compared with wild-type subjects. Heterozygotes for healthy volunteers also showed elevated triglycerides (P <0 .05). Suggesting that 373 Ala → Pro and 451 Arg → Gln are frequent, missense mutations that carriers of both healthy volunteers and patients with coronary heart disease may exhibit decreased serum high-density lipoprotein cholesterol and elevated triglyceride levels high.