【摘要】 目的研究原发性肾病综合征(PNS)患儿载脂蛋白E(apoE)主要等位基因和基因型的分布规律,探讨apoE基因多态性与PNS脂质代谢紊乱的关系。方法检测PNS患儿46例和正常小儿39例血清总胆固醇(TC)、三酰甘油(TG)、高密度脂蛋白胆固醇(HDL-C)、低密度脂蛋白胆固醇(LDL-C)、apoA1、apoB和apoA1/B,同时用聚合酶链反应-单链构象多态性(PCR-SSCP)结合测序的方法确定apoE基因型,并根据平衡法计算出各等位基因频率。结果1.肾病组TC、TG、HDL-C、LDL-C、apoB、apoA1/B均明显高于对照组(P均<0.01);2.肾病组apoE2/2频率显著高于对照组(χ2=4.50 P<0.05);3.肾病组不同基因型和等位基因各项血脂指标均未见明显差异。结论PNS患儿存在明显脂质代谢紊乱,apoE2/2频率显著增高,apoE基因多态性对PNS患儿血脂水平未见明显影响。更多还原

【Abstract】 Objective To study the distribution of apolipoprotein E（apoE） genotypes and alleles in children with primary nephrotic syndrome（PNS）,and to investigate the relationship between apoE gene polymorphism and disturbance of serum lipid metabolism.Methods Forty-six children with PNS were compared with 39 age-sex-matched healthy children.Serum levels of total cholesterol（TC）,triglyeride（TG）,high density lipoprotein-cholesterol（HDL-C）,low density lipoprotein-cholesterol（LDL-C）,apoA₁,apoB and apoA₁/B were detected,and polychain reaction single-strand conformation polymorphism（PCR-SSCP） combined with gene sequence determination was used to confirm the apoE genotypes in two groups.Results 1.Serum TC,TG,HDL-C,LDL-C,apoB and apoA₁/B in PNS group were higher than those of control group,respectively（P<0.01）.2.The ratio of apoE2/2 in PNS group was higher than that of control group evidently（P<0.05）.3.There was no obvious difference in serum lipids among genotypes and alleles of PNS group.Conclusions PNS is associated with the marked increases in TC,TG,HDL-C,LDL-C,apoB and apoA₁/B;the ratio of apoE2/2 was higher;apoE gene polymorphism has no obvious effects on the serum concentrations of lipids and lipoproteins in PNS children.更多还原