原发性肾病综合征高脂血症载脂蛋白E/B基因多态性研究

目的 探讨载脂蛋白E、B(ApoE,ApoB)基因多态性与原发性肾病综合征(PNS)患儿高脂血症(HLP)的相关性.方法 150例PNS患儿和100例健康儿童均空腹12h以上清晨采静脉血2mL,应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法分析ApoE基因Hha Ⅰ位点和ApoB基因Xba Ⅰ位点多态性;血清总胆固醇(TC)、三酰甘油(TG)、脂蛋白a(LPa)、高密度脂蛋白(HDL)、低密度脂蛋白(LDL)、载脂蛋白A1(ApoA1)和ApoB浓度以全自动生化分析仪测定,非-高密度脂蛋白(non-HDL)等于TC减去HDL.结果 ①肾病组共检出6种基因型,分别为纯合子E2/2 4例(2.92%),E3/3 117例(77.78%),E4/4 5例(3.51%),杂合子E3/2 13例(8.77%),E4/2 5例(3.51%),E4/3 6例(4.09%),根据平衡法算出等位基因e2频率为8.67%,e3频率为84.33%,e4频率为7.00%;对照组共检出5种基因型,分别为纯合子E3/3 73例(73.00%),E4/4 5例(5.00%),杂合子E3/2 15例(15.00%),E4/2 1例(1.00%),E4/3 6例(6.00%),根据平衡法算出等住基因e2频率为8.00%,e3频率83.50%,e4频率为8.50%,肾病组和对照组ApoE各基因型及等位基因频率分布未见显著差异(P>0.05).②PNS患儿ApoE不同基因型及等位基因间各项血脂指标均未见明显差异(P>0.05).③肾病组检出X-/X-132例(88.00%),X+/X-17例(11.33%).X+/X+1例(0.67%);等位基因X-频率为93.67%,X+频率为6.33%.对照组检出X-/X-95例(95.00%),X+/X-5例(5.00%),未发现X+/X+基因型;等位基因X-频率为97.50%,X+频率为2.50%,肾病组和对照组Xba Ⅰ位点各基因型及等位基因频率分布未见显著差异(P>0.05).④携带等位基因X+的PNS惠儿血清LPa、TC、non-HDL、LDL、LDL/HDL及ApoB浓度明显高于X-者(P<0.05),而ApoA1/B则显著降低(P<0.01).结论 尚不能认为ApoE基因Hha Ⅰ位点多态性对PNS患儿血脂代谢构成影响;ApoB等位基因X+可能是PNS患儿继发HILP的易患因子,对于携带X+的患儿,除了规则、足量、足疗程的糖皮质激素治疗外,积极的调整饮食、监测血脂变化及心血管疾病(CVD)并发症也非常必要.

Associations of the apolipoprotein E and B gene polymorphisms with hyperlipidemia subsequenced to primary nephrotic syndrome

Objective To probe the associations of the Apolipoprotein E(ApoE) and B(ApoB) gene polymorphisms with hyperlipidemia(HLP) subsequenced to primary nephrotic syndrome(PNS) in children.Methods2 mL Blood samples were taken after a fasting period of 12 hours from 150 PNS and 100 healthy children, the Hha I locus of ApoE gene and the Xba I locus of ApoB gene polymorphisms were analyzed through polymerase chain reactionrestriction fragment length polymorphism(PCR-RFLP) technique, alleles frequency were calculated ...