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目的探讨载脂蛋白B(ApoB)基因EcoR I位点多态性对儿童血脂及肾功能的影响。方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术结合测序的方法确定70例健康体检儿童ApoB基因EcoR I位点的基因型,同时计算体质量指数(BMI),检测血清脂蛋白a(LPa)、总胆固醇(TC)、三酰甘油(TG)、高密度脂蛋白胆固醇(HDL-C)、非高密度脂蛋白胆固醇(non-HDL)、低密度脂蛋白胆固醇(LDL-C)、ApoA1、ApoB、ApoA1/B、尿素氮(BUN)、肌酐(Ccr)及尿酸(UA)水平。结果1.EcoR I位点各基因型频率分别为E+/E+:72.875%,E+/E-:18.571%,E-/E-:8.571%,等位基因E+与E-的频率分别为82.143%和17.857%;2.各基因型组间比较结果显示血清LPa、TC、HDL-C、ApoA1和BUN组间差异具有统计学意义(P<0.05);3.E+/E-组血清TC、HDL-C和ApoA1水平显著高于E+/E+组(P<0.01);E-/E-组BUN显著高于E+/E+组(P<0.01);E-/E-组LPa和ApoA1明显低于E+/E-组(P<0.05),但BUN明显较E+/E-组升高(P<0.05);4.等位基因E-组血清TC、HDL-C、LDL-C和BUN明显高于E+组(P<0.05)。结论ApoB基因EcoR I位点多态性可能通过调控血脂代谢进而对肾功能构成的影响。
Objective To investigate the effect of ApoB polymorphism on serum lipids and renal function in children. Methods The genotypes of EcoR I of ApoB gene in 70 healthy children were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and sequencing. The body mass index (BMI) Serum lipoprotein (LPa), total cholesterol (TC), triglyceride (TG), high density lipoprotein cholesterol (HDL-C), non-HDL cholesterol, low density lipoprotein cholesterol LDL-C, ApoA1, ApoB, ApoA1 / B, BUN, creatinine and uric acid. The frequencies of the EcoR I loci were E + / E +: 72.875%, E + / E-: 18.571%, E- / E-: 8.571%, and alleles E + and E- were 82.143% And 17.857%, respectively.2. The results of comparison of genotypes showed that there was significant difference between serum LPa, TC, HDL-C, ApoA1 and BUN (P <0.05) C and ApoA1 levels in E-E-E group were significantly higher than those in E + / E + group (P <0.01) (P <0.05), but BUN was significantly higher than that in E + / E group (P <0.05). 4. The levels of TC, HDL-C, LDL-C and BUN in E- In E + group (P <0.05). Conclusion The polymorphism of ApoB gene EcoR I locus may affect the renal function by regulating blood lipid metabolism.