Polymorphism of apolipoprotein E and occurrence of dysbetalipoproteinaemia in man.

摘要: PRIMARY dysbetalipoproteinaemia (broad-β disease, hyper-lipoproteinaemia type III) is a familial disorder of plasma lipoprotein metabolism associated with xanthomatosis and early onset severe atherosclerotic vascular disease1–4. A defect in the catabolism triglyceride-rich lipoproteins probably underlies accumulation atypical cholesterol-rich (very low density β lipoproteins, ‘β–VLDL’) Sf 12–400 fraction5–7. The assumed to be rare8 we have provided evidence for an autosomal recessive mode inheritance9,10. Patients show variant one major protein component (Apo E) VLDL1,12. Apo E glycoprotein molecular weight ∼ 39,000 that splits into three main bands designated E-I (pI∼5.3), E-II (pI∼5.4) E-III (pI∼5.55) iso-electric focusing13. characterised by deficiency lipoproteins. We report here shows genetic polymorphism determined two alleles En Ed. About 1% German population homozygous allele Ed exhibits deficiency. All individuals this genotype primary but not necessarily hyperlipidaemia. This therefore most frequent monogenic dyslipoproteinaemia known man.