浙江省汉族与畲族CYP2C19基因多态性研究

 目的 调查浙江省汉族与畲族CYP2C19基因多态性。方法 采用PCR体外扩增CYP2C19的两个多态性位点CYP2C19*2(m1)和CYP2C19*3(m2),m1的PCR扩增产物用Sma I酶切,m2的PCR产物用BamH I酶切,琼脂糖电泳检测。结果 汉族与畲族各种基因型出现频率为:wt／wt:0.412,0.411;wt／ml:0.345,0.387;wt/m2:0.108,0.055;ml／ml:0.081,0.123;ml／m2:0.054,0.018;m2／m2:0.000,0.006。汉族与畲族CYP2C19不同等位基因出现频率:wt:0.639,0.632;ml:0.280,0.325;m2:0.081,0.043。结论 浙江省汉族m2出现频率高于畲族,且差异显著(P<0.05);畲族ml出现频率高于汉族。CYP2C19各种基因型:wt／wt出现频率汉、畲两民族相近;wt／m2,ml／m2基因型汉族大于畲族;wt／ml,ml／ml畲族明显高于汉族。

Study on cytochrome p-450 2C19 genetic polymorphism in Zhejiang Han and She nationalities

OBJECTIVE To study the incidence of CYP 2C19 polymorphism in the Zhejiang Chinese Han and She nationalities. METHODS Detection of CYP 2C19 * 2(ml)and CYP 2C19 * 3 (m2) mutant alleles was performed using a polymerase chain reaction-restriction fragment length polymorphism method. After PCR amplification, the DNA fragments of CYP 2C19 * 2 were digested with Sma I, the DNA fragments of CYP 2C19 * 3 were digested with BamH I before electrophoresis with a 2.5% agarose gel.RESULTS CYP 2C19 genotype frequencies in Zhejiang Han and She nationalities were: wt/wt:0.412 and 0.41 l;wt/ml:0.345 and 0.387, wt/m2:0.108 and 0.055,ml/ml: 0.081 and 0.123,ml/m2:0.054 and 0.018,m2/m2:0.000 and 0.006.CYP 2C19 allele frequencies were:wt:0.639 and 0.632,ml:0.280 and 0.325,m2:0.081 and 0.043.CONCLUSION The frequency of m2 allele in Han subjects is significantly higher than that in She subjects (P < 0.05).The frequency of ml allele in Han subjects is lower than that in She subjects.Genotype analysis indicated that the frequency of wt/wt in both Han and She subjects is parallel,the frequencies of wt/m2 and ml/m2 are higher in Han than that in She subjects,the frequencies of both wt/ml and ml/ml in Han subjects are lower than that in She subjects.