摘要
目的 探讨江苏地区汉族人群载脂蛋白E (APOE)基因多态性和表型分布的特征。方法 选择 16 8名江苏地区无血缘关系健康汉族人 ,聚合酶链反应 (PCR)扩增ApoE基因第 4外显子包含编码第 112位和第 15 8位氨基酸碱基的基因序列 ,cfoI限制性内切酶酶切后电泳 ,经银染色后分析ApoE基因型。计算各基因型及等位基因频率分布。结果 江苏地区汉族健康人群载脂蛋白E各基因型频率分别为 :ε2 / 2 =0 6 0 % ,ε2 / 3=11.90 % ,ε2 / 4 =1.2 0 % ,ε3/ 4 =10 .70 % ,ε3/ 3=75 .0 0 % ,ε4 / 4 =0 6 0 % ;各等位基因频率分别为 :ε2 =7.14 % ,ε3=86 .31% ,ε4 =6 .5 5 %。频率分布在不同年龄、性别无显著差异。中国人群ε3等位基因频率明显高于欧美人群 ,而ε4等位基因频率明显低于欧美人群。结论 江苏地区汉族健康人群载脂蛋白E等位基因频率分布与其他地区中国人群频率分布相似 ,与欧美人群不同。
Objective To study the Apolipoprotein E(ApoE) genotypes and its alleles frequencies distribution of unrelated normal Chinese of Han nationality in Jiangsu area.Methods 168 cases of normal Chinese of Han nationality in Jiangsu area were collected.Exon 4 of Apolipoprotein E fragment coding for 112 and 158 amino acid residues was amplified by polymerase chain reaction (PCR),and the product was digested by cfoI endonuclease,after electrophoresis and silver staining, the specific cfoI fragments of different sizes were visualized.The ApoE genotypes and its alleles frequencies distribution of unrelated normal Chinese of Han nationality in Jiangsu area were calculated,and were compared with other population.Results The frequencies of the ApoE genotypes in normal Chinese of Han nationality in Jiangsu area were separated: ε2/2= 0.60%,ε2/3=11.90%,ε3/4=1.20%,ε3/4=10.70%,ε3/3=75.00%,ε4/4=0.60%;and the frequencies of three common alleles were separated: ε2=7.14%,ε3=86.31%,ε4=6.55%,there were no difference among the groups of various age and sex in the distribution of ApoE alleles frequencies.The distribution of ApoE alleles frequencies in Jiangsu area was similar to that of Chinese population in other area, but the ε4 allele frequency was lower than that in Europe and America, while the ε3 allele frequency was higher.Conclusion The frequency of the three ApoE alleles of normal Chinese population in Jiangsu area is similar to those of Chinese population in other area, and the ApoE alleles are highly variable among different populations.
出处
《中国血液流变学杂志》
CAS
2004年第4期463-466,475,共5页
Chinese Journal of Hemorheology
