高胆固醇血症与LDLR基因的相关性分析

Study on LDLR Gene Mutations of Hypercholesterolemia

目的通过对兰州地区100例高胆固醇血症患者的LDLR基因的测序分析,寻找高胆固醇血症的致病位点,以期为该病的预防和治疗提供理论依据。方法收集兰州地区100例高胆固醇血症患者的外周血标本,提取DNA后对目的基因进行PCR扩增并测序,结果在BLAST进行比对分析。结果 100例高胆固醇血症患者中,共发现9个突变位点,有5个同义突变,3个错义突变(p.R406Q、p.D622Y、p.P661T),1个终止突变(p.E714X),其中3个突变(p.R406Q、p.P661T、p.E714X)未见文献报道。结论通过对兰州地区高胆固醇血症LDLR基因突变位点的研究,了解该地区基因突变特点,为高胆固醇血症的早期预防、诊断及治疗提供理论依据。

Objective：Through the investigation of LDLR gene mutations,to understand the hereditary etiologies and characteristics of hypercholesterolemia at the molecular level and provide evidence and strategies for prevention and treatment.Methods：To collect peripheral blood specimens of 50 patients with hypercholesterolemia in Shanxi Province,PCR and sequencing analysis target gene after extracting DNA.Results：9 mutations were found in 50 cases of patients with hy.There are five synonymous mutations,three missense mutations（p.R406Q、p.D622Y、p.P661T）,a termination mutations（p.E714X）,of which three mutations（p.R406Q、p.P661T、p.E714X）have not been reported. Conclusion：Our study of common hypercholesterolemia gene mutation in Shanxi area have showed the gene mutation spectrum in this area,what can understand the characteristics of the region mutations and provide a theoretical basis for early prevention,diagnosis and treatment of hypercholesterolemia.