Seet Wan Tai, Mary Anne Tan Jin Ai, Yen Tan Si
Department of Medicine, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia.
Clin Chim Acta. 2004 Feb;340(1-2):201-5. doi: 10.1016/j.cccn.2003.11.001.
Apolipoprotein E (apoE) is encoded by a polymorphic gene located on chromosome 19. The three common apoE alleles are epsilon2, epsilon3 and epsilon4. We studied the frequencies of the apoE alleles and genotypes in the three ethnic groups-Malay, Chinese and Indian-in Malaysia using DNA amplification followed by agarose gel electrophoresis.
EDTA blood was collected and DNA was extracted using proteinase K-SDS digestion and purified by phenol-chloroform extraction. The apoE gene sequence was amplified using the PCR and apoE genotyping was performed by restriction enzyme digestion with HhaI.
Genotyping of the apoE gene produces six genotypes-E2/E2, E2/E3, E3/E3, E2/E4, E3/E4 and E4/E4. The most common apoE genotype in the Malays, Chinese and Indians studied was E3/E3, thus the most common apoE allele was epsilon3. The three common apoE genotypes were E3/E3 followed by E3/E4 and E2/E3, except in the Indians where E2/E3 was not detected. The three apoE alleles were confirmed in the Malays, Chinese and Indians except for the epsilon2 allele which was absent in the Indians.
The combined frequency of the apoE alleles in the Malays, Chinese and Indians was 0.058, 0.829 and 0.114 for epsilon2, epsilon3 and epsilon4, respectively.
载脂蛋白E(apoE)由位于19号染色体上的一个多态性基因编码。常见的三种apoE等位基因是ε2、ε3和ε4。我们采用DNA扩增后进行琼脂糖凝胶电泳的方法,研究了马来西亚三个种族——马来人、华人及印度人——中apoE等位基因和基因型的频率。
采集乙二胺四乙酸(EDTA)抗凝血,用蛋白酶K-SDS消化法提取DNA,并通过酚-氯仿萃取法进行纯化。采用聚合酶链反应(PCR)扩增apoE基因序列,并用HhaI限制性内切酶消化法进行apoE基因分型。
apoE基因分型产生六种基因型——E2/E2、E2/E3、E3/E3、E2/E4、E3/E4和E4/E4。在研究的马来人、华人及印度人中,最常见的apoE基因型是E3/E3,因此最常见的apoE等位基因是ε3。三种常见的apoE基因型依次为E3/E3、E3/E4和E2/E3,但在印度人中未检测到E2/E3。在马来人、华人及印度人中均证实存在三种apoE等位基因,但印度人中不存在ε2等位基因。
在马来人、华人及印度人中,ε2、ε3和ε4这三种apoE等位基因的合并频率分别为0.058、0.829和0.114。