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目的探讨高胆固醇血症与枯草溶菌素转化酶9(PCSK9)基因的相关性,为高胆固醇血症的早期防治提供遗传学依据。方法在300例高胆固醇血症患者中选取LDLR基因与Apo B100基因第26号外显子未发生突变的高胆固醇血症患者100例,同时选取健康对照者50例作为研究对象,采集所有研究对象外周血并抽提各研究对象全血基因组DNA,采用聚合酶链反应(PCR)对PCSK9基因全部12个外显子进行扩增、测序,将测序结果在BLAST比对分析。结果 50例健康对照者未发现PCSK9基因的突变;100例高胆固醇血症患者中,共发现7个突变位点,其中3个同义突变(L112L、V460V、C626C),3个错义突变(p.R93C、p.V474L、p.G670E),1个框移突变(416-417ins CTG),其中p.R93C及416-417ins CTG未见文献报道。结论本研究通过对PCSK9基因突变位点的筛查,了解高胆固醇血症患者PCSK9基因的突变情况,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 investigate the relationship between hypercholesterolemia and subtilisin invertase 9 (PCSK9) gene and to provide a genetic basis for the early prevention and treatment of hypercholesterolemia. Methods A total of 100 hypercholesterolemia patients without mutation of LDLR gene and Apo B100 exon 26 were selected from 300 patients with hypercholesterolemia. Meanwhile, 50 healthy controls were selected as the research object, and all the peripheral Whole blood genomic DNA was extracted from all subjects and all 12 exons of PCSK9 gene were amplified by polymerase chain reaction (PCR) and sequenced. The sequencing results were analyzed by BLAST. Results No mutations of PCSK9 gene were found in 50 healthy controls. Seven hundred mutations were found in 100 cases of hypercholesterolemia, including three synonymous mutations (L112L, V460V and C626C), three missense mutations p.R93C, p.V474L, p.G670E), a frame shift mutation (416-417ins CTG), of which p.R93C and 416-417ins CTG have not been reported in the literature. Conclusion In this study, we investigated the mutation of PCSK9 gene in patients with hypercholesterolemia by screening the mutation sites of PCSK9 gene and provided a theoretical basis for the early prevention, diagnosis and treatment of hypercholesterolemia.