CETP新突变点Ala373Pro和Arg451Gln及其座位关系

Identification and Localization of Two Novel Missense Mutations of Cholesteryl lister Transfer Protein Gene - Ala373Pro and Arg451Gln

收集在脂质专科门诊就诊者中血清高密度脂蛋白-胆固醇(HDL-C)高于1.8mmol/L者的全血标本,通过聚合酶链反应(PCR)技术扩增胆固醇酯转运蛋白(CETP)基因,继而采用荧光直读法进行CETP基因组DNA序列分析,首次发现一女性先驱者同时携带CETP基因两个新的突变点,即CETP第373位丙氨酸为脯氨酸取代(Ala373Pro)和第451位精氨酸突变为谷氨酰胺(Arg451Gln).采用等位基因特异性长片段PCR技术进一步研究表明该先驱者所携带的两个CETP基因新突变点Ala373Pro和Arg451Cln位于同一染色体.

The whole blood samples were collected from individuals who visited the Lipid Clinic of Munster University and whose HDL - C levels were over 1. 80mmol/ L.The human genomic DNA of cholesteryl ester transfer protein(CETP) was amplified with polymerase chain reaction (PCR) and was sequenced using automated laser fluorescence technique.It was the first time identified that a female proband who carries two novel missense mutations of CETP gene, i. e. the substitutions of alanine to proline in codon 373 and of arginine to glutamine in codon 451. With aid of allelespecific and long fragment PCR it was demonstrated that these two variants of CETP gene, Ala373Pro and Arg451Gln, are cis located in the same chromosome.