佛山市汉族人群HIF1A基因1790(G→A)多态性研究

Study on the 1790(G→A) Polymorphism of HIF1A gene in Foshan Han Nationality

目的研究低氧诱导因子-1α基因(HIF1A)第12外显子1790(G→A)单核苷酸多态性在广东佛山市汉族人群中的分布特征。方法随机选取佛山市汉族健康个体90人的血样,提取白细胞基因组DNA,利用限制性片段长度多态性-聚合酶链反应(restriction fragment length polymorphism-polymerase chain reaction,RFLP-PCR)技术检测HIF1A基因第12外显子1790(G→A)的单核苷酸多态性基因型,并分析其基因多态性特征。结果HIF1A基因1790(G→A)单核苷酸多态性的GG、GA和AA基因型频率分别为75.56%、21.11%和3.33%,G、A等位基因频率分别为86.11%、13.89%。广东佛山汉族人群HIF1A基因1790(G→A)单核苷酸多态性等位基因分布频率与日本人群相比差异有显著意义(P<0.05)。结论广东佛山汉族人群HIF1A基因1790(G→A)多态性以GG基因型分布频率高,具有一定的种族差异性。

Objective To study the distribution features of single nucleotide polymorphism （SNPs） of 1790 （G→A） in exon 12 HIF1A （hypoxia-inducible factor 1, alpha subunit） gene in Foshan Hart nationality. Methods The blood samples were selected randomly from 90 Han nationality in Foshan city, and from which genomic DNA was extracted. The allele and genotypes frequencies of single nucleotide polymorphisms of 1790 （G→A） in exon 12 of HIF1A gene were determined by restriction fragment length polymorphism- polymerase chain reaction （RFLP- PCR）. The characteristics of genotypes distribution were analyzed. Results The genotype frequencies of HIF1A gene 1790 （G →A） observed in Han nationality were 75. 56%, 21. 11% and 3. 33% for GG, GA and AA respectively, and the allele frequencies were 86. 11% and 11.89% for G and A respectively. There was significant difference in distribution of allele frequencies between Foshan Han nationality and Japanese. Conclusion GG genotype frequency is higher than other of 1790 （G→A） polymorphism of HIF1A gene in Foshan Han nationality. It has difference in different ethnic population.