Mehrabian M, Sparkes R S, Mohandas T, Klisak I J, Schumaker V N, Heinzmann C, Zollman S, Ma Y H, Lusis A J
Somat Cell Mol Genet. 1986 May;12(3):245-54. doi: 10.1007/BF01570783.
Apolipoprotein B (apoB) is the major protein component of low-density and very-low-density lipoproteins. We have recently isolated nonoverlapping cDNA clones for apoB and confirmed their identity by sequence comparisons. We now report the mapping of the human apoB gene (APOB) to the p23-p24 region of chromosome 2 by examination of human-mouse somatic cell hybrids and by in situ hybridization to human chromosomes. Thus, APOB is unlinked to members of the dispersed gene family encoding other apolipoprotein species or to the gene encoding the low-density lipoprotein receptor. Hybridization analysis with genomic DNA and liver and intestinal mRNA suggests that APOB encodes both the high-molecular-weight form of apoB (apoB100) incorporated into very-low-density lipoproteins in liver and the lower-molecular-weight form (apoB48) incorporated into chylomicrons in intestine. Restriction fragment length polymorphisms of APOB have been identified and should prove useful in examining the possibility that genetic variations of APOB are involved in dyslipoproteinemias and atherosclerosis.
载脂蛋白B（apoB）是低密度脂蛋白和极低密度脂蛋白的主要蛋白质成分。我们最近分离出了apoB的非重叠cDNA克隆，并通过序列比较证实了它们的身份。我们现在报告通过检测人-鼠体细胞杂种以及对人染色体进行原位杂交，将人类apoB基因（APOB）定位到2号染色体的p23-p24区域。因此，APOB与编码其他载脂蛋白种类的分散基因家族成员或低密度脂蛋白受体的编码基因没有连锁关系。用基因组DNA以及肝脏和肠道mRNA进行杂交分析表明，APOB编码肝脏中掺入极低密度脂蛋白的高分子量形式的apoB（apoB100）以及肠道中掺入乳糜微粒的低分子量形式（apoB48）。已经鉴定出APOB的限制性片段长度多态性，这对于研究APOB的基因变异是否参与血脂异常和动脉粥样硬化的可能性应该是有用的。
