闽东地区畲族人群CYP2C19基因多态性分析

目的：调查闽东地区汉族与畲族人群CYP2C19基因多态性分布情况。方法：采用限制性片段长度多态性聚合酶链反应（PCR-RFLP），对汉族（n=140）与畲族（n=180）人群CYP2C19两个多态性位点CYP2C19·2和 CYP2C19·3的基因多态性进行分析，用SPSS16.0软件进行统计分析，Hardy-Weinberg遗传平衡定律验证基因型分布情况。结果：汉族与畲族人群各种基因型出现频率分别为：·1/·1 14.3%，28.9%；·1/·2 28.6%，30.0%；·1/·3 11.4%，16.7%；·2/·2 21.4%，9.4%；·2/·3 21.4%，12.8%；·3/·3 2.9%，2.2%。汉族与畲族CYP2C19不同等位基因出现频率：·1为34.3%，52.2%；·2为46.4%，30.8%；·3为19.3%，16.9%。结论：闽东地区畲族与汉族CYP2C19·2与·3等位基因突变率存在差异，畲族人群基因突变率低于汉族（P＜0.05）。

Analysis of CYP2C19 gene polymorphism of the She nationality in eastern Fujian Province

Objective： To investigate the distribution of CYP2C19 gene polymorphism of the Han and the She nationalities in eastern Fujian Province. Methods Detection of cYPgC19 · 2 and CYP2C19·3 mutant alleles of the Han（n=140） and the She（n= 180） nationalities was performed using polymerase chain reaction-restriction fragment length polymorphism method. The data were analyzed by SPSS16.0 software. CYP2C19 genotype frequencies of the Han and the She nationalities in eastern Fujian Province were verified by Hardy-Weinberg equilibrium. Resuits：CYP2C19 genotype frequencies of the Han and the She nationalitieswere·l/·1 14.3%,28.9%· 1/· 2 28. 6%,30.0·/0· 1/· 3 11. 4%,16. 7%· 2/· 2 21. 4%,9. 4%;· 2/· 3 21.4%, 12.8% ; · 3/· 3 2.9% ,2.2% ,respectively. The mutant alleles frequencies of CYP2C19 of the Han and the She national- ities were, · 1 34.3%,52.2%· 2 46.4%,30.8%;· 3 19.3%,16.9% ,respectively. Conclusion：The mutant alleles frequencies of CYP2C19· 2 and CYP2C19· 3 of the She nationality were significantly lower than those of the Han nationality（P〈0.05）.