突变阻断扩增法检测中国人CYP2D6*10、*14等位基因

Determination of CYP2D6*10 and *14 genotypes by amplification refractory mutation methods in Chinese subjects

目的根据突变阻断扩增原理,建立用于检测中国人CYP2D6*10及*14等位基因的方法。方法采用单管四引物法检测CYP2D6*10等位基因,建立等位基因特异扩增法检测CYP2D6*14等位基因,检测295名健康中国汉族人CYP2D6*10等位基因。结果CYP2D6*10及*14等位基因基因频率分别为55.8%和1.8%,295位受试者中包括1位*14/*14、6位*1/*14、3位*10/*14,基因型分布符合Hardy-Weinberg平衡(χ2=2.15,df=5,P>0.82)。结论本室建立的CYP2D6*10、*14等位基因分析法具有方便快捷、结果准确可靠的特点。

AIM To establish methods on the basis of amplification refractory mutation polymerase chain reaction （PCR） for the genotyping of CYP2D6 ＊ 10 and ＊ 14 allele in Chinese subjects. METHODS A single tube tetra-primers amplification method was used for the genotyping of CYP2D6 ＊10 allele. An allele specific amplification method was established for the genotyping of CYP2D6 ＊14 allele. CYP2D6 genotypes of 295 healthy Chinese subjects were analyzed. RESULTS The gene frequency of CYP2D6 ＊ 10 and ＊ 14 was 55.8 % and 1.8 % respectively. There were 1 ＊ 14/ ＊14, 6 ＊ 1/＊ 14 and 3 ＊ 10/＊ 14 in 295 Chinese subjects. The CYP2D6 genotype distribution for CYP2D6＊10 and 14 alleles was consistent with Hardy-Weinberg equilibrium （Χ^2 = 2.15, df = 5, P 〉 0.82）. CONCLUSION The genotyping method established in our laboratory is proved to be rapid and convenient, and the results are reliable.