| 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 |
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| 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 |
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| 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. |
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