【摘要】 目的　调查我国家族性高胆固醇血症 (FH )患者低密度脂蛋白受体基因突变类型。方法　以患者的基因组DNA为模板 ,用聚合酶链反应扩增该基因的 18个外显子。用单链构象多态性方法分析检测PCR产物 ,对电泳结果异常者进行DNA测序 ;错配引物PCR引入MspI酶切位点检测最常见的载脂蛋白B基因突变类型R35 0 0Q。结果　经单链构象多态性分析发现 ,7个先证者有异常电泳条带出现。DNA测序证实 ,先证者存在 9个突变位点。经文献检索发现除C2 5 5R外 ,其余均系尚未报道的新突变类型。在所有FH患者中未检测出载脂蛋白B基因突变。结论　中国人FH患者可能存在独特的低密度脂蛋白受体基因突变谱更多还原

【Abstract】 Objective To screen the mutations of low-density lipoprotein receptor (LDLR) gene in Chinese familial hypercholesterolemia (FH) patients. Methods 7 patients with clinical phenotype of homozygous FH and their parents were investigated for mutations in all the eighteen exons of LDLR gene. Screening was carried out using PCR-SSCP and direct DNA sequencing and LDLR gene mutation database was searched to identify the alteration. In addition, the apolipoprotein B gene (apo B) was screened for known mutations (R3500Q) that caused familial defective apo B100 (FDB) with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results Nine mutations in the LDLR gene were identified in the FH patients. All the mutations except C255R have not been published in the LDLR gene mutation database. No mutation of apo B100 (R3500Q) was observed. Conclusions Chinese FH patients may have specific spectrum and regional difference of LDLR gene mutations. Apolipoprotein B-100 gene mutation might not be the main cause of hypercholesterolemia patients in China.更多还原