Al-Bustan Suzanne A, Alnaqeeb Majed A, Annice Babitha G, Ibrhim Ghada, Al-Rubaian Jassem, Ahmed Abdul Hadi, Refai Thanna M
Department of Biological Sciences, Faculty of Science, Kuwait University, PO Box 5969, Safat 13060, Kuwait.
Hum Biol. 2005 Aug;77(4):487-98. doi: 10.1353/hub.2005.0058.
Apolipoproteins (lipid-free) are lipid-binding proteins that circulate in the plasma of human blood and are responsible for the clearance of lipoproteins. Apolipoprotein E (ApoE) is one of the several classes of this protein family. It acts as a ligand for the low-density lipid (LDL) receptors and is important for the clearance of very low-density lipid (VLDL) and chylomicron remnants. The APOE gene locus is polymorphic, with three major known alleles, APOE3, 4, and 2. We investigated the distribution of the allele frequency of the APOE gene locus and describe here the genetic variation in four Kuwaiti subpopulations: Arab origin (Arabian peninsula), Arab Bedouin tribes, Iranian origin, and the heterogeneous population. We also describe the use of Spreadex gels in resolving the amplified and digested products of the APOE gene locus. DNA was extracted from whole blood and subjected to PCR and then to RFLP analysis. Allele and genotype frequencies were estimated for the total population and for each subpopulation. Statistical analysis showed no difference in the allele frequencies between the four groups. The frequency of APOE3 in the Kuwaiti population was highest (88.4%) followed by the frequency of APOE4 (6.5%) and APOE2 (5.1%). The genotype and allele frequencies obtained for the Kuwaiti population fell within the reported worldwide distribution for the APOE gene locus. Moreover, the results obtained in this study showed no statistical difference (p > 0.05) between the APOE allele and genotype frequencies between the subgroups for all six genotypes and three alleles, supporting the assumption of admixture in the Kuwaiti population and that the obtained frequencies were in Hardy-Weinberg equilibrium. Finally, we found that the distribution of the APOE alleles in Kuwait differs somewhat from those reported in other Arab populations, suggesting that the Arabs originating from the Arabian peninsula are different from those of Lebanon, Morocco, and Sudan.
载脂蛋白（无脂质）是在人体血液血浆中循环的脂质结合蛋白，负责脂蛋白的清除。载脂蛋白E（ApoE）是该蛋白家族的几类之一。它作为低密度脂质（LDL）受体的配体，对极低密度脂质（VLDL）和乳糜微粒残粒的清除很重要。APOE基因位点具有多态性，有三个已知的主要等位基因，即APOE3、4和2。我们研究了APOE基因位点等位基因频率的分布，并在此描述了四个科威特亚群体中的遗传变异：阿拉伯裔（阿拉伯半岛）、阿拉伯贝都因部落、伊朗裔和异质群体。我们还描述了使用Spreadex凝胶来解析APOE基因位点的扩增和消化产物。从全血中提取DNA，进行PCR，然后进行RFLP分析。估计了总群体和每个亚群体的等位基因和基因型频率。统计分析表明，四组之间的等位基因频率没有差异。科威特人群中APOE3的频率最高（88.4%），其次是APOE4的频率（6.5%）和APOE2的频率（5.1%）。科威特人群获得的基因型和等位基因频率落在APOE基因位点报道的全球分布范围内。此外，本研究获得的结果表明，所有六个基因型和三个等位基因的亚组之间的APOE等位基因和基因型频率没有统计学差异（p>0.05），支持科威特人群混合的假设，并且获得的频率处于哈迪-温伯格平衡。最后，我们发现科威特APOE等位基因的分布与其他阿拉伯人群报道的有所不同，这表明来自阿拉伯半岛的阿拉伯人与黎巴嫩、摩洛哥和苏丹的阿拉伯人不同。
