新疆汉族健康人群维生素K环氧化物还原酶亚单位1启动子区1639A/G基因多态性研究

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目的了解VKORC1-1639A/G基因多态性在新疆汉族健康人群中的分布及其与其他不同民族之间的差异。方法采用PCR-RFLP技术对205名乌鲁木齐地区汉族体检健康人群VKORC1-1639A/G基因多态性进行检测,计算其基因型和等位基因频率,并与国外多个民族VKORC1-1639A/G基因多态性分布进行比较。结果新疆汉族健康人群中共检测到2种等位基因:A和G。等位基因频率分别为87%和13%。新疆汉族健康人群VKORC1-1639A/G基因多态性共检测到3种基因型,以AA基因型常见,基因型频率74%。其次是AG基因型,基因型频率分别为26%。GG基因型的个体仅检测到1例,基因型频率小于1。结论新疆汉族VKORC1-1639A/G基因多态性以A等位基因和AA基因型常见,新疆汉族VKORC1-1639A/G基因多态性与欧美人群相比存在较大差异。 Objective To investigate the distribution of VKORC1-1639A / G polymorphism in healthy Han population in Xinjiang and its differences with other ethnic groups. Methods The polymorphisms of VKORC1-1639A / G gene in 205 healthy Han nationality healthy people in Urumqi were detected by PCR-RFLP. The genotype and allele frequency of VKORC1-1639A / G gene were calculated and compared with those of other ethnic VKORC1-1639A / G genes Morphological distribution for comparison. Results Two alleles were detected in healthy Han population in Xinjiang: A and G. Allele frequencies were 87% and 13%, respectively. Three genotypes were detected in VKORC1-1639A / G polymorphism of healthy Han population in Xinjiang. The AA genotype was common, and the genotype frequency was 74%. Followed by AG genotypes, genotype frequencies were 26%. Only one case was detected in the GG genotype and the genotype frequency was less than one. Conclusion Polymorphism of VKORC1-1639A / G gene is common in Xinjiang Han population with A allele and AA genotype. VKORC1-1639A / G polymorphism in Xinjiang Han population is significantly different from that in European and American populations.
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