Analysis of Locus for Autosomal Dominant Hyperlipidemia

点击翻译按钮获取中文摘要

In order to examine the relationship between autosomal dominant hyperlipidemia and loci, gene for LDL receptor, apolipoprotein B, apolipoprotein E, and apolipoprotein AI were analyzed on hyperlipidemic individuals and their family members. The data obtained in this study indicate that the orgin of mutations of the LDL receptor gene tends to very among defferent families with familial hypercholesterolemia and that the analysis of RFLPs for the LDL receptor gene in family members is useful for the gene diagnosis of familial hypercholesterolemia. In addition, our date indicate that autosomal dominant hypercholesterolemia associated with tendon xanthomas is genetically divided into two groups, that is, the one due to the mutant LDL receptor gene and the other due to mutantions in the locus except the LDL receptor locus. It is important to clarify whether the mutation in the apolipoprotein B gene results in autosomal dominant hypercholesterolemia associated with tendon xanthomas. Besides the results described above, our date also suggest the following: 1) Apolipoprotein E4 is associated with hypercholesterolemia in Japanese living in large cities. 2) S2 allele of apolipoprotein AI RFLPs is not associate with myocardial infarction in Japanese. 3) Familial combined hyperlipidemia is also common in Japanese.