Autosomal dominant hypoalphalipoproteinemia due to a completely defective apolipoprotein A-I gene.
Autosomal dominant hypoalphalipoproteinemia due to a completely defective apolipoprotein A-I gene.
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由于载脂蛋白 A-I 基因完全缺陷而导致的常染色体显性低 α 脂蛋白血症。
DOI：
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发表时间：
1993
期刊：
影响因子：
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通讯作者：
H. Hamaguchi
中科院分区：
文献类型：
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作者：
K. Nakata;K. Kobayashi;H. Yanagi;Y. Shimakura;S. Tsuchiya;T. Arinami;H. Hamaguchi
原发性低脂脂蛋白血症与动脉粥样硬化相关，并表现出明显的家族聚集性。为了揭示由于载脂蛋白A-I基因完全缺陷导致的常染色体显性遗传性低脂蛋白血症的存在，对一个HDL胆固醇和载脂蛋白A-I水平低的日本家族进行了载脂蛋白A-I基因分析。在载脂蛋白A-I基因中，在密码子3和5之间的7个C运行区域中检测到一个C插入。该突变的杂合子状态与约50%的正常HDL胆固醇水平和正常载脂蛋白A-I水平相关。这些数据表明，部分家族性低脂蛋白血症可能是一个常染色体显性遗传性状，由于完全缺陷的载脂蛋白A-I基因。
Primary hypoalphalipoproteinemia is associated with atherosclerosis and exhibits significant familial aggregation. To reveal the presence of autosomal dominant hypoalphalipoproteinemia due to a completely defective apolipoprotein A-I gene, the apolipoprotein A-I gene was analyzed in a Japanese family with low levels of HDL cholesterol and apolipoprotein A-I. An insertion of a C in the region of the seven C run between codons 3 and 5 was detected in the apolipoprotein A-I gene. The heterozygous state for the mutation was associated with approximately 50% of the normal HDL cholesterol levels and of the normal apolipoprotein A-I levels. The data suggest that a part of familial hypoalphalipoproteinemia might be an autosomal dominant trait due to a completely defective apolipoprotein A-I gene.