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目的:研究低氧诱导因子-1α(HIF-1α)基因C1772T单核苷酸多态性(SNP/C1772T)在中国北方汉族人群中的分布特征。方法:通过PCR-RFLP实验方法,解析206名中国北方汉族人群HIF-1α基因C1772T单核苷酸多态性。结果:HIF-1α基因C1772T单核苷酸多态性基因型频率、等位基因频率在中国北方汉族人群中分布为:CC基因型93%,CT基因型7%,C等位基因96%,T等位基因4%,未发现突变纯合子TT基因型。且中国北方汉族人群中HIF-1α基因C1772T单核苷酸多态性等位基因频率的分布特征与欧洲白种人相比有显著性差异(P<0.05);与美洲人及日本人在基因型、等位基因频率的分布上基本一致。结论:HIF-1α基因C1772T单核苷酸多态性具有一定的种族差异性。
Objective: To investigate the distribution of HIF-1α gene C1772T SNP (C1772T) in Chinese Han population in northern China. Methods: The C1772T single nucleotide polymorphisms of HIF-1α gene in 206 Chinese Han population of northern China were analyzed by PCR-RFLP. Results: The frequency and allele frequency of C1772T SNP in HIF-1α gene were 93% in CC genotype, 7% in CT genotype, 96% in C allele, T allele 4%, no mutant homozygous TT genotype was found. The distribution of allele frequency of C1772T polymorphism of HIF-1α gene in Han population of northern China was significantly different from that of white people in Europe (P <0.05). Compared with Caucasian and Japanese, Type, allele frequency distribution is basically the same. Conclusion: The C1772T single nucleotide polymorphism of HIF-1α gene has some racial differences.