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目的了解γ-谷氨酰羧化酶(γ-glutamylcarboxylase,GGCX)基因多态位点G3261A在中国人群中的分布情况。方法标准酚-氯仿法提取273份健康人外周血基因组DNA,应用聚合酶链反应/变性高效液相色谱(PCR/DHPLC)技术检测GGCXG3261A位点基因型。结果 273例无关个体中,基因型GG、GA和AA分别有110例、138例和25例,各占40.29%、50.55%和9.16%,G和A等位基因的频率分别为65.57%和34.43%。结论获得中国人GGCXG3261A等位基因和基因型分布,为GGCXG3261A基因多态性与中国人华法林用量个体差异相关性的研究打下基础。
Objective To investigate the distribution of γ-glutamyl carboxylase (GGCX) gene polymorphism G3261A in Chinese population. Methods Genomic DNA was extracted from 273 healthy volunteers by standard phenol - chloroform method. Genotypes of GGCXG3261A locus were detected by polymerase chain reaction / denaturing high performance liquid chromatography (PCR / DHPLC). Results Among 273 unrelated individuals, the genotypes GG, GA and AA were 110 cases, 138 cases and 25 cases, accounting for 40.29%, 50.55% and 9.16%, respectively. The frequencies of G and A alleles were 65.57% and 34.43 %. Conclusion The distribution of GGCXG3261A alleles and genotypes in Chinese population lays the foundation for the study on the relationship between GGCXG3261A polymorphism and the individual differences in dosage of warfarin in Chinese.