云南地区汉族人群CYP2C9和VKORC1基因多态性研究

目的 了解CYP2C9和VKORC1基因单核苷酸多态性在云南汉族人群中的频率分布.方法 采用电化学基因传感器法对202例样本的CYP2C9(430C> T、1075A>C和1080C>G)位点及 VKORC1(-1639G>A和1173C> T)位点基因多态性进行检测,统计其等位基因频率和基因型频率,并与相关人群的基因多态性分布进行分析.结果 202份样本中共检测到CYP2C9*2位点C/C基因型202例(100.0%),等位基因C频率为100.0%;CYP2C9*3位点A/A基因型185例(91.6%),A/C基因型15例(7.4%),C/C基因型2例(1.0%),等位基因 A频率为95.3%,C为4.7%;CYP2C9*5位点C/C基因型202例(100.0%),等位基因 C 频率为100.0%;VKORC1的 -1639G > A 位点 A/A 基因型145例(71.8%),G/A 基因型57例(28.2%),等位基因A频率为85.9%,G为14.1%;1173C> T位点T/T基因型145例(71.8%),C/T基因型57例(28.2%),等位基因T频率为85.9%,C为14.1%.结论 云南汉族人群CYP2C9基因和我国其他地区汉族人群的分布一致;VKORC1基因与国外人群、我国汉族和部分少数民族的基因分布有较大区别.

Genetic polymorphisms of CYP2C9 and VKORC1 among Han population in Yunnan area

Objective To understand the frequency distribution of CYP2C9 and VKORC1 gene single nucleotide polymor-phisms in Yunnan Han population.Methods CYP2C9(430C> T,1075A>C and 1080C> G)locus and VKORC1(-1639G> A and 1173C> T)locus gene polymorphisms in 202 samples were detected by adopting electrochemical gene sensor method,and the allele frequencies and genotype frequencies were performed the statistics and the gene polymorphism in relevant populations was an-alyzed.Results Among 202 samples,202 cases(100.0%)were genotype C/C at CYP2C9 * 2 locus,C allele frequency was 100.0%;185 cases(91.6%)were genotype A/A at CYP2C9*3 locus,15 cases(7.4%)were A/C genotype,2 cases(1.0%)were C/C genotype,A allele frequency was 95.3%,C allele frequency was 4.7%;CYP2C9*5 locus genotype C/C was in 202 cases (100.0%),C allele frequency was 100%;VKORC1 -1639G > A locus genotype A/A was in 145 cases(71.8%),57 cases (28.2%)were G/A genotype,A allele frequency was 85.9%,G was 14.1%;1173C> T locus genotype T/T was in 145 cases (71.8%),C/T gene type in 57 cases(28.2%),T allele frequency was 85.9%,and C was 14.1%.Conclusion The distribution of CYP2C9 gene in Yunnan Han population is similar to that in other regions of our country.The VKORC1 gene is different from the foreign population,Chinese Han nationality and partial minority nationalities.