论文部分内容阅读
目的 筛查原发性高胆固醇血症患者载脂蛋白B 1 0 0基因可能存在的突变体。方法 通过改变参与巢式聚合酶链反应 (PCR)反应的一个寡核苷酸引入酶切入点法检测载脂蛋白B 1 0 0基因发生R350 0Q的突变情况。在其附近可能存在的突变位点用单链构象多态性分析 (SSCP)和DNA测序分析法进行筛查。结果 34例样本均未发现载脂蛋白B 1 0 0基因突变位点。结论 载脂蛋白B 1 0 0基因突变可能不是引起原发性高胆固醇血症的主要原因。
Objective To screen for potential mutations in the apolipoprotein B 1 0 0 gene in patients with primary hypercholesterolemia. Methods The mutation of R350 0Q in apolipoprotein B 1 0 0 gene was detected by changing the entry point of an oligonucleotide involved in nested polymerase chain reaction (PCR). Mutations sites that may exist nearby are screened using single strand conformation polymorphism (SSCP) and DNA sequencing analysis. Results None of the 34 cases found the Apo B o 0 gene mutation site. Conclusion The mutation of apolipoprotein B 1 0 0 may not be the main cause of primary hypercholesterolemia.