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 Polymorphism of Apolipoprotein B Gene in Han Nationality

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EcoRI位点有E+及E-两种等位基因,基因频率分别为87.1%和12.9%;XbaI位点有X+及X-两种等位基因,基因频率分别为6.1%和93.9%;MspI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。

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 EcoRI, XbaI, MspI, Ins/Del and YVNTR in Chinese Han Nationality. Methods： PCR-RFLP technique was used in analyzing the genotype of EcoRI, XbaI and MspI. PCR and gel electrophoresis were used in analyzing the genotype of Ins/Del and YVNTR. Results：① OThere are two alleles were found in the site of EcoRI. 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 MspI. Their frequencies were M＋=97.1% and M-=2.3%. There were two alleles found in the site of Ins/Deh Their frequencies Were Ins=70.7% and De1=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 liVE32 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.