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目的探讨高胆固醇血症患者低密度脂蛋白受体(LDL-R)基因第4外显子XspI位点多态性与血清超敏C反应蛋白(Hs-CRP)的关系及意义。方法用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术结合DNA测序技术检测1 250例高胆固醇血症患者和1 200例健康体检者LDL-R基因第4外显子的XspI酶切位点多态性;按基因型分组,用动态定时散射比浊法检测各基因型Hs-CRP的浓度,对两者关系进行分析;同时检测各组的血脂指标。结果与健康对照组比较,高胆固醇血症组血清HsCRP明显升高,HDL-C降低(P均<0.05);根据LDL-R第4外显子处是否有XspI酶切位点,分为X+X+、X+X-、X-X-3种基因型,X-X-组、X+X-组、X+X+组血清Hs-CRP水平依次升高(P均<0.05);多元线性回归分析显示,基因型和胆固醇水平是Hs-CRP水平的独立影响因素。结论高胆固醇血症患者血清Hs-CRP水平升高,LDL-R基因X+X+基因型Hs-CRP水平升高,LDL-R基因第4外显子的XspI位点多态性可能通过影响Hs-CRP水平促进高胆固醇血症。
Objective To investigate the relationship between XspI polymorphism at the exon 4 of LDL-R gene and serum high sensitivity C-reactive protein (Hs-CRP) in patients with hypercholesterolemia. Methods Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing were used to detect the exon 4 of LDL-R gene in 1 250 hypercholesterolemia patients and 1 200 healthy controls XspI restriction site polymorphism. According to the genotypes, the concentration of Hs-CRP in each genotype was detected by dynamic time-resolved turbidimetry. The relationship between them was analyzed. Results Compared with healthy control group, the serum HsCRP in hypercholesterolemia group was significantly higher and HDL-C was lower (all P <0.05). According to the existence of XspI site in LDL-R exon 4, The level of Hs-CRP in X + X +, X + X- and X + X + groups increased successively (P <0.05). The multiple linear regression analysis showed that the Hs- Genotype and cholesterol levels are independent influencing factors of Hs-CRP level. Conclusion The serum Hs-CRP level in patients with hypercholesterolemia is elevated, and the Hs-CRP level in LDL-R genotype X + X + genotype is increased. The XspI polymorphism in exon 4 of LDL-R gene may be related to Hs- -CRP levels promote hypercholesterolemia.