Deeb S S, Takata K, Peng R L, Kajiyama G, Albers J J
Department of Medicine, University of Washington School of Medicine, Seattle 98195.
Am J Hum Genet. 1990 Apr;46(4):822-7.
The first case of familial apolipoprotein A-II (apo A-II) deficiency was recently reported from Hiroshima, Japan, and designated apo A-IIHiroshima. The proband had no immunologically detectable apo A-II in her plasma. DNA sequence analysis showed that the proband was homozygous for a G----A transition at position 1 of intron 3 of the apo A-II gene. A sister of the proband, who had an intermediate level of plasma apo AII, was shown to be heterozygous for this base substitution. This splice-junction alteration is most likely responsible for apo A-II deficiency, since it would be expected to completely block splicing of intron 3 from the primary transcript and therefore prevent formation of functional mRNA. This deficiency seems to have little influence either on lipid and lipoprotein profiles or on the occurrence of coronary artery disease.
首例家族性载脂蛋白A-II（apo A-II）缺乏症最近由日本广岛报道，并命名为apo A-II广岛型。先证者血浆中无免疫可检测到的apo A-II。DNA序列分析表明，先证者apo A-II基因内含子3第1位的G→A转换为纯合子。先证者的一个姐妹血浆apo A-II水平处于中间值，被证明为该碱基替代的杂合子。这种剪接连接改变很可能是apo A-II缺乏的原因，因为预计它会完全阻断初级转录本中内含子3的剪接，从而阻止功能性mRNA的形成。这种缺乏似乎对脂质和脂蛋白谱或冠状动脉疾病的发生影响很小。
