中国北方汉族人群低氧诱导因子-1α基因C1772T多态性研究  

C1772T polymorphism of hypoxia-inducible factor-1α gene in Han ethnic population from Northern China

作　　者：刘海平[1] 胡扬[2] 许春燕[2] 

机构地区：[1]温州医学院运动人体科学系,浙江温州325035 [2]北京体育大学运动人体科学学院,北京100084

出　　处：《浙江大学学报（医学版）》2008年第3期267-270,共4页Journal of Zhejiang University(Medical Sciences)

基　　金：国家科技部资助课题(2003BA904B04)

摘　　要：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 analyze the distribution of single nucleotide polymorphism C1772T （SNP/C1772T） in hypoxia-inducible factor -1α （HIF-1α） gene in Han ethnic population from Northern China. Methods： Allele frequencies in a sample of 206 healthy Chinese Hans were determined by polymerase chain reaction followed by restriction fragment length polymorphism. Results： The genotype frequencies of C1772T observed in Chinese Hans were 93% and 7% for CC and CT respectively and allele frequencies were 96% and 4% for C and T respectively. There was significant difference in distribution of allele frequencies between Chinese Hans and Caucasian. Conclusion： The single nucleotide polymorphism of C1772T in HIF-1α gene has difference in different ethnic population.

关 键 词：汉族 中国 多态性 单核苷酸 等位基因 缺氧 

分 类 号：R394[医药卫生—医学遗传学]