PCR-SSCP法检测小儿原发性肾病综合征载脂蛋白E基因多态性  

Determination of apolipoprotein E polymorphism in children with idiopathic nephrotic syndrone by PCRSSCP

作　　者：曾华松[1,2,3] 郭仁寿[1,2,3] 陈重义[1,2,3] 刘绪青[1,2,3] 吴淑群[1,2,3] 许家琪[1,2,3] 张龙江[1,2,3] 余百川 宋朝政[1,2,3] 

机构地区：[1]广州市儿童医院 [2]湖北医科大学附二院儿科 [3]湖北省宜昌市中心医院儿科

出　　处：《中华肾脏病杂志》1998年第1期24-28,共5页Chinese Journal of Nephrology

摘　　要：目的探讨小儿原发性肾病综合征（ＮＳ）脂质代谢紊乱机制。方法测定了６８例小儿ＮＳ及１２０例健康对照组７项血脂指标，采用聚合酶链反应－单链构象多态性（ＰＣＲ－ＳＳＣＰ）技术检测其载脂蛋白Ｅ（ＡｐｏＥ）基因多态性。并采用ＳＤＳ－ＰＡＧＥ检测ＮＳ组尿蛋白类型。结果所有７项指标在携不同ＡｐｏＥ等位基因（Ａｐｏε２、Ａｐｏε３及Ａｐｏε４）的患儿之间均无显著性差异（Ｐ＞０．０５），而携Ａｐｏε３等位基因型的选择性蛋白尿（ＳＰＵ）组血总胆固醇（ＴＣ）、甘油三酯（ＴＧ）显著高于同型的非选择性蛋白尿组（ＮＳＰＵ）（Ｐ＜０．０５）。ＮＳＰＵ组的Ａｐｏε２等位基因频率显著高于健康儿童组（１２．９６％ｖｓ５．００％，Ｐ＜０．０５）。结论小儿原发性ＮＳ的脂质紊乱主要与其蛋白代谢异常有关而与ＡｐｏＥ基因多态性无明显关系。但携Ａｐｏε２等位基因的ＮＳＰＵ患儿有进行性肾脏损害的可能。bjective To investigate the molecular mechanism of abnormal lipid in children with idiopathic nephrotic syndrome (INS). Methods 7 lipoprotein metabolism parameters including serum TC, TG, HDLC, LDLC, ApoAI, ApoB and LP(a) of 68 children wiht INS as well as 120 age and sexmatched healthy children were determined. Singlestrand conformational polymorphism (PCRSSCP) were used to determine the ApoE genotypes of the patients and the types of urine protein were determined by urine protein sodium dodecylsulphate polyacrylamide. Results All 7 parameters had no difference among the cases with Apo ε2, ε3 and ε4 allele genotypes (P>005), but serum TC, TG in Apo ε3/3 genotype cases with selectivity proteinuria (SPU) were higher than that in the same genotype cases with nonselectivity proteinuria (NSPU) significantly (P<005). Except that the Apo ε2 allele genotype frequency of NSPU cases was higher than that of healthy children significantly (1296% vs 5.00% P<0.05), the other ApoE allele genotype frequencies and genotype frequencies of INS group, SPU group or NSPU group had no difference from those of control group (P>005). Conclusion Abnormal lipid in childhood INS are mainly caused by their abnormal protein metabolism, and have no obviously relation with ApoE polymorphism, but NSPU cases with Apo ε2 allele genotypes have the possibility of progressive renal damage. 

关 键 词：肾病综合征 载脂蛋白E 基因多态性 PCR-SSCP 

分 类 号：R726.920.4[医药卫生—儿科]