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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 To search for the pathogenic sites of hypercholesterolemia by sequencing the LDLR gene in 100 cases of hypercholesterolemia in Lanzhou, in order to provide a theoretical basis for the prevention and treatment of the disease. Methods Peripheral blood samples from 100 patients with hypercholesterolemia were collected from Lanzhou area. After DNA was extracted, the target genes were amplified by PCR and sequenced. The results were compared by BLAST. Results A total of 9 mutations were found in 100 patients with hypercholesterolemia. There were 5 synonymous mutations, 3 missense mutations (p.R406Q, p.D622Y, p.P661T) and one termination mutation (p .E714X), of which 3 mutations (p.R406Q, p.P661T, p.E714X) have not been reported in the literature. Conclusion Through the study of the mutation of LDLR gene in hypercholesterolemia in Lanzhou area, we can know the characteristics of gene mutation in this area and provide a theoretical basis for the early prevention, diagnosis and treatment of hypercholesterolemia.