中文摘要：

建立构象差异凝胶电泳（conformation difference gel electrophoresis,CDGE）检测亚甲基四氢叶酸还原酶（methylenetetrahydrofolate reductase,MTHFR）基因A1298C多态性的方法。分别用PCR-CDGE和PCR-RFLP对10例样本的MTHFR基因A1298C多态性进行分型。CDGE结果显示有8例样本表现为迁移率慢的1条带,1例样本表现为迁移率快的1条带,1例样本表现为2条带。酶切结果显示AA基因型有8例,AC基因型和CC基因型各1例。CDGE和酶切结果的对比显示二者的结果是一致的。CDGE是一种可以对MTHFR基因A1298C多态性分型的方法。

英文摘要：

To establish the protocol of conformation difference gel electrophoresis （CDGE） for genotyping of A1298C polymorphism in methylenetetrahydrofolate reductase （MTHFR）. A1298C polymorphism of 10 samples was identified by two methods, polymerase chain reaction-conformation difference gel electrophore- sis （PCR-CDGE） and PCR-restriction fragment length polymorphism （PCR-RFLP）. For PCR-CDGE, 8 samples showed a single slow-moving band, 1 sample showed a single fast-moving band, and 1 sample showed double bands. For PCR-RFLP, 8 samples were AA genotypes, 1 sample was AC genotype and 1 sample was CC genotype. The results of PCR-CDGE and PCR-RFLP were consistent. Therefore, CDGE could be a new method that could be used for genotyping of A1298C polymorphism in MTHFR.