【摘要】 目的:探讨脂蛋白脂肪酶基因(LPL)缺陷和载脂蛋白E(apoE)基因型与儿童Ⅴ型高脂血症的关系。方法:采用测定血脂、脂蛋白电泳分型和聚合酶链反应、克隆及测序的方法,对脂蛋白脂肪酶基因外显子1-9进行扫描;同时采用multi-ARMS快速分型法对患者及其家人进行apoE分型。结果:经血脂相关指标检测和脂蛋白电泳分析确定为Ⅴ型高脂血症,未发现脂蛋白脂肪酶基因缺陷,该患者及其家人apoE基因型均为ε3/4型。结论:本例儿童Ⅴ型高脂血症与LPL基因缺陷关联不大,与apoE基因ε3/4型可能相关,或存在其他基因缺陷。更多还原

【Abstract】 Objective: To explore the relationship between lipoprotein lipase gene defects and apoE genotypes and type Ⅴ hyperlipidemia in children.Methods: Serum lipids and related items,lipoprotein electrophoresis were determined by commercial kits.Polymerase chain reaction(PCR),clone and DNA sequencing techniques were used to detect exon 1 to 9 of lipoprotein lipase gene defects in the patient and apoE genotypes in the patient and her family.Results: The results of serum lipids,apolipoprotein and lipoprotein electrophoresis revealed that the patient was type Ⅴ hyperlipidemia.None defect of lipoprotein lipase gene was found in the patient,and their apoE genotypes were all ε3/4.Conclusion: Lipoprotein lipase gene defects may not play a key role in the pathogenesis of type Ⅴ hyperlipidemia in children,while apoε3/4 might implicate in the pathogenesis,or there were other gene defects in this patient.更多还原