摘要
本文采用快速薄层平板等电聚焦电泳加敏感的银染技术,对南京地区63名正常人、70名非FH高脂血症患者,11名FH患者Apo-E表型、等位基因频率及血脂水平进行测定,发现正常人ε3基因频率高于、ε4基因频率低于正常高加索人,这种特征,可能与我国人群CAD发病率较西方人群为低有关。血脂测定表明,Apo-E3/2型TG、VLDL-C、VLDL-TG和VLDL-C/VLDL-TG水平升高,TC、LDL-C和HDL-C则降低,Apo-E4/3型相反。我们还发现,Ⅱb型HLPε4基因频率最高,Ⅲ型HLPε2基因频率最高。看来,ε2基因具有升高TG丰富脂蛋白、降低ch丰富脂蛋白的作用,而ε4基因作用相反。测定Apo-E表型对预测冠心病危险性可能有作用。FH患者,ε3基因频率明显低于正常人,ε2和ε4频率升高,这是否因为多个基因间相互作用,尚待进一步研究。
A rapid thin flat gel isoelectric focusing method followed by ultrasensitive silver staining was developed for the determination of apo E phenotypes. Using this method, apo E phenotypes and allele frequencies in 63 normal individuals, 70 patients with hyperlipidemia and 11 patients with familial hypereholesterolemia (FH) in Nanjing were examined. TC, TG, HDL-C, LDL-C, VLDL-C, VLDL-TG in these cases were also measured. The relative frequency of the ε4 allele is significantly lower while the relative frequency of the ε3 allele is higher in this group than in the Caucasian group. Plasma TG, VLDL-TG, VLDL-C and VLDL-C/VLDL-TG are higher in the apo E3/2 phenotype, and lower in the apo E4/3 phenotype, wherea splasma TC, LDL-C levels are lower in the apo-E3/2 and higher in the apo E4/3 phenotype. It implies that the ε2 allele has the action of increasing TG-rich lipoprotein particles and reducing ch-rich lipoproteins in plasma, while the ε4 allele has an effect opposite to that of the ε2 allele. The highest prevalence of the ε4 allele was associated with type Ⅱb hyperlipoproteinemia (HLP), while that of the ε2 allele was associated with type Ⅲ-HLP. The frequency of ε2, ε4 are higher in FH patients as compared with normal subjects.
出处
《中国病理生理杂志》
CAS
CSCD
北大核心
1990年第3期142-147,共6页
Chinese Journal of Pathophysiology
关键词
载脂蛋白
冠心病
遗传多态性
脂类
Apolipoproteins
Polymorphism
Isoelectric focusing
Lipids
