文章摘要
谢金卫 张文超 张磊 梁发胜 何顺朋 骆晓枫 周俊宜.中国汉族apoB 基因EcoRI、XbaI、MspI、Ins/Del 及3'端VNTR 位点的多态性研究[J].,2014,14(30):5849-5854
中国汉族apoB 基因EcoRI、XbaI、MspI、Ins/Del 及3'端VNTR 位点的多态性研究
Study on EcoRI, XbaI, MspI, Ins/Del and 3'VNTR Polymorphismof Apolipoprotein B Gene in Han Nationality
  
DOI:
中文关键词: 载脂蛋白B  基因多态性  连锁不平衡
英文关键词: ApoB  Genetic Polymorphism  Linkage Disequilibrium
基金项目:
作者单位
谢金卫 张文超 张磊 梁发胜 何顺朋 骆晓枫 周俊宜 中山大学医学实验教学中心中山大学中山医学院临床二系中山大学中山医学院生化教研室 
摘要点击次数: 610
全文下载次数: 733
中文摘要:
      目的:apo B基因多态性对群体遗传学、心血管疾病等研究领域有着重要的价值,本文分析了中国汉族人群中apoB 基因 EcoRI、XbaI、MspI、Ins/Del 及3' 端VNTR 等5 个多态性位点的等位基因频率分布,为相关研究提供基础资料。方法:应用PCR-RFLP技术分析EcoRI、XbaI、MspI 等3 个位点的多态性分布,应用常规PCR方法分析Ins/Del 及3' 端VNTR 等2 个位点的多态性分布。结果:①人群中I位点有E+及E-两种等位基因,基因频率分别为87.1%和12.9%; I 位点有X+及X-两种等位基因,基因频率分别为6.1%和93.9%; I位点有M+ 及M- 两种等位基因,基因频率分别为97.1%和2.3%;Ins/Del 位点有Ins 及Del两种等位基因,基因频率分别为70.7%和29.3%;3' 端VNTR 位点有16种等位基因,其中以HVE34 与HVE36 最为常见, 频率分别为33.4%与21%。②连锁不平衡分析表明,5 个位点间除XbaI 与Ins/Del 间存在较弱的连锁不平衡(D'=0.911,r2=0.175),其余点位间无显著连锁不平衡。结论:数据比对表明,5个多态性位点的基因型和等位基因频率存在民族、种族差异,因此在apo B基因相关研究中应充分考虑遗传背景造成的影响。
英文摘要:
      Objective:The polymorphism of Apolipoprotein B Gene is important in the field of population genetics and cardiovascular disease research. We study polymorphic sites of Apolipoprotein B Gene such as EcoR I, XbaI, MspI, Ins/Del and 3'VNTR in Chinese Han Nationality.Methods:PCR-RFLP technique was used in analyzing the genotype of EcoRI, Xba I and MspI. PCR and gel electrophoresis were used in analyzing the genotype of Ins/Del and 3'VNTR.Results:①There are two alleles were found in the site of I. Their frequencies were E+=87.1% and E-=12.9. There were two alleles were found in the site of XbaI. Their frequencies were X+=6.1%, X-=93.9%. There are two alleles were found in the site of Msp I. Their frequencies were M+=97.1%and M-=2.3%. There were two alleles found in the site of Ins/Del. Their frequencies were Ins=70.7% and Del=29.3%. Totally 16 alleles were found in the site of 3'VNTR. The HVE34 and HVE36 were the most common, and the frequencies of HVE32 and HVE34 were 33.4% and 21%. ② A meaningful Linkage disequilibrium was found between XbaI and Ins/Del (D'=0.911, r2=0.175).Conclusion:There is a frequency difference of genotype and allele in the 5 sites of apoB among different nationalities ethnic population.
查看全文   查看/发表评论  下载PDF阅读器
关闭