论文部分内容阅读
为了揭示婴儿恶性高脂血症的发病机制,利用分析性等电聚焦技术对一例婴儿恶性高脂血症患儿父母极低密度脂蛋白载脂蛋白进行分析,并对聚焦条带进行等电点测定及光密度扫描。结果:患儿父母载脂蛋白(apo)CⅡ(父0.008g/L,母0.026g/L)、apoCⅢ(父0.04g/L,母0.06g/L)的含量均比正常人少,且患儿父母apoCⅢ1缺失。所测到的apoCⅡ、apoCⅢ0、apoCⅢ2等电点分别为4.79、4.93、4.54,未发现等电点异常的条带。推测其父母是apoCⅡ缺乏征杂合子,患儿为apoCⅡ缺乏征纯合子。结果提示患儿父母apoCⅢ总量的减少乃至apoCⅢ1缺乏是对apoCⅡ含量下降的补偿,apoCⅡ浓度及/或apoCⅡ/apoCⅢ比值可能是有效激活脂蛋白脂酶(LPL)的关键。
In order to reveal the pathogenesis of hyperlipidemia in infants, using an analytical isoelectric focusing technique to analyze a very high density lipoprotein (LDL) apoprotein in children with hyperlipidemia in infants and carrying out isoelectric point Determination and optical density scanning. Results: The levels of apolipoprotein C (parent 0.008g / L, female 0.026g / L) and apoCⅢ (parent 0.04g / L, female 0.06g / L) were less than those in normal subjects Parents apoC Ⅲ 1 deletion. The measured apoC Ⅱ, apoC Ⅲ 0, apoC Ⅲ 2 isoelectric point were 4.79,4.93,4.54, no abnormal isoelectric point of the band was not found. Speculated that their parents are apoC Ⅱ deficiency syndrome heterozygous children with apoC Ⅱ deficiency syndrome. The results suggest that the reduction of the total apoC Ⅲ and the deficiency of apoC Ⅲ 1 in the parents of the children compensate for the decrease of the apoC Ⅱ. The apoC Ⅱ concentration and / or apoC Ⅱ / apoC Ⅲ ratio may be the key to effectively activate the lipoprotein lipase (LPL).