【摘要】 目的:探讨Ⅳ型高脂血症(ⅣHL)患者高密度脂蛋白(HDL)亚类组成与脂蛋白酯酶基因多态性的关系。方法:采用聚合酶链反应限制性片段长度多态性和双向电泳免疫印迹检测法,分析104例ⅣHL患者和107例血脂正常者的脂蛋白酯酶基因内含子8HindⅢ酶切位点多态性、HDL亚类组成及相对百分含量。结果:ⅣHL组和对照组均以H+H+纯合子基因型为主,ⅣHL患者H+等位基因频率较对照组增加,而H-H-等位基因频率显著降低(P<0.05)。ⅣHL组和对照组H+H+基因型者与H-H-者比较,血浆TG、TG/HDLC比值明显升高,Ⅳ型HL组H+H+基因型者与H-H-者比较,HDL小颗粒的preβ1HDL、HDL3a相对含量增多,大颗粒的HDL2a、HDL2b相对含量减少,其差异有统计学意义(P<0.05)。结论:ⅣHL患者脂蛋白酯酶基因多态性与HDL亚类的组成及成熟代谢相关。更多还原

【Abstract】 Objective:The present study explored the association between lipoprotein lipase (LPL) gene Hind Ⅲ polymorphism and serum high density lipoprotein (HDL) subclasses in patients with type Ⅳ hypertriglyceridemia. Method:Lipoprotein lipase gene HindⅢ polymorphism was assayed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), the subclasses of serum HDL were determined by two-dimensional gel electrophoresis conjunction with immunodetection method in 104 type Ⅳ hypertriglyceridemic patients and 107 healthy subjects. Result:Both in type Ⅳ hypertriglyceridemic group and control group, the H+H+ homozygote was the major alleltype.The H+ allelic frequency of type Ⅳ hypertriglyceridemic group was higher than that of control group,while the H- allelic frequency was significantly lower (P<0.05). In type Ⅳ hypertriglyceridemic group and control group, the plasma triglyceride (TG) levels and TG/HDL-C ratio of H+H+ genotype were significantly higher than H-H- genotype (P<0.05). In type Ⅳ hypertriglyceridemic group, compared with the H-H- genotype the H+H+ genotype had higher serum preβ1-HDL, HDL3a and lower serum HDL2a , HDL2b (P<0.05). Conclusion:The Hind Ⅲ polymorphism at intron 8 of LPL gene is associated with subclasses of HDL and mature metabolism of HDL in type Ⅳ hypertriglyceridemic subjects.更多还原