【摘要】 目的应用荧光PCR-熔解曲线法检测新疆回族人群细胞色素P450酶2C9(CYP2C9)和维生素K环氧化物还原酶复合体亚单位1(VKORC1)基因多态性,研究新疆回族人群CYP2C9和VKORC1基因分布及基因突变频率情况,并评价荧光PCR-熔解曲线法临床使用的适用性。方法采用荧光PCR-熔解曲线法和测序法对比检测CYP2C9*2、CYP2C9*3和VKORC1(-1639G/A)的基因多态性。结果 228例新疆回族人群中,共检测出CYP2C9*1/*1标本199例,CYP2C9*1/*2标本2例,CYP2C9*1/*3标本26例,CYP2C9*3/*3标本1例,未检测出CYP2C9*2/*2和CYP2C9*2/*3标本。VKORC1(-1639G/A)检测出2种等位基因G和A,其中VKORC1-1639G/G型标本检出2例,VKORC1-1639G/A型标本检出39例,VKORC1-1639A/A型标本检出187例,与测序法对比检测比较,荧光PCR-熔解曲线法与测序法检测结果完全一致。结论新疆回族人群同样具有CYP2C9基因*2、*3位点和VKORC1基因-1639位点的多态性,其发生频率与新疆维吾尔族及其他地域人群的具有一定差异,所采用的荧光PCR-熔解曲线法用于基因多态性检测可满足临床检测要求。更多还原

【Abstract】 Objective To use the fluorescence PCR-melting curve method to detect CYP2C9 and VKORC1gene polymorphism in Xinjiang Hui population,to analyze their gene distribution and gene mutation frequency,and to evaluate the clinical applicability of the fluorescence PCR-melting curve method.Methods The fluorescence PCR-melting curve method and sequencing method were adopted to contrastively detect CYP2C9*2,CYP2C9*3and VKORC1(-1639G/A)gene polymorphism.Results Among detected228 Xinjiang Hui individuals,199 cases of CYP2C9*1/*1,2cases of CYP2C9*1/*2,26 cases of CYP2C9*1/*3and only 1case of CYP2C9*3/*3were detected,no case of CYP2C9*2/*2and CYP2C9*2/*3was detected.Two kinds of allele G and A were detected for VKORC1(-1639G/A),in which VKORC1-1639G/G type was detected in 2cases,VKORC1-1639G/A type was detected in 39 cases and VKORC1-1639A/A type was detected in187 cases,compared with the sequencing method,the results of the fluorescence PCR-melting curve method were completely consistent.Conclusion Xinjiang Hui population also has CYP2C9gene*2,*3loci and VKORC1gene(-1639G/A)locus polymorphism,their occurrence frequency has a certain difference with Xingjiang Uygur and other regional populations,the adopted fluorescence PCR-melting curve method used in the gene polymorphism detection can meet clinical detection requirements.更多还原