Richard P, de Zulueta M P, Beucler I, De Gennes J L, Cassaigne A, Iron A
Département de Biochimie Médicale et Biologie Moléculaire, Université de Bordeaux, France.
Atherosclerosis. 1995 Jan 6;112(1):19-28. doi: 10.1016/0021-9150(94)05393-w.
A new rare apolipoprotein E mutant was identified as we were investigating the apolipoprotein E genotype of patients with type III hyperlipidemia (HLP III). The unusual DNA restriction fragment length polymorphism profile and then the sequence analysis of a PCR amplified fragment of the proband's apo E gene revealed a simple base substitution (G-->T) at nucleotide 3836. This mutation leads to the replacement of arginine by leucine at position 142 of the mature protein. The proband carried the mutant allele at the heterozygous status with an epsilon 3 allele. Subsequently, analysis of the proband's father's apo E gene showed that same mutated allele associated with an epsilon 2 allele. The two subjects presented a dysbetalipoproteinemia in which this new apo E variant could be implicated.
在我们对III型高脂血症（HLP III）患者的载脂蛋白E基因型进行研究时，发现了一种新的罕见载脂蛋白E突变体。先前所见不寻常的DNA限制性片段长度多态性图谱，以及随后对先证者载脂蛋白E基因的PCR扩增片段进行的序列分析，揭示了核苷酸3836处的一个简单碱基替换（G→T）。该突变导致成熟蛋白第142位的精氨酸被亮氨酸取代。先证者以杂合状态携带突变等位基因和ε3等位基因。随后，对先证者父亲的载脂蛋白E基因分析表明，相同的突变等位基因与ε2等位基因相关。这两名受试者均表现出异常β脂蛋白血症，这种新的载脂蛋白E变体可能与之有关。
