【摘要】 目的：研究中国汉族人群Ｓ美芬妥英４’羟化代谢遗传多态性。方法：以美芬妥英为探针药物采用手性毛细管气相色谱法测定尿中Ｓ／ＲＭＰ浓度比值，对９０名志愿者进行了表型分型测定，应用ＰＣＲ技术对其中的２６名志愿者进行了Ｓ美芬妥英４’羟化酶（ＣＹＰ２Ｃ１９）基因分析。结果：表型分析结果，１１人属慢代谢者（ＰＭ），Ｓ／Ｒ比值０９５；基因分析结果，６人为野生型纯合子（ｗｔ／ｗｔ）；１０人为杂合子（ｗｔ／ｍ１和ｗｔ／ｍ２），９人为ＣＹＰ２Ｃ１９ｍ１突变型纯合子（ｍ１／ｍ１），１人为两突变型杂合子（ｍ１／ｍ２）。结论：表型分析与基因分析结果显示了很好的相关性，本实验测得慢代谢者的频发率为１２２％，与文献报道相符。更多还原

【Abstract】 AIM: To assess the phenotype and genotype pattern of Smephenytoin 4’hydroxylation in Chinese population. METHODS: The phenotypes of ninety healthy subjects were analyzed with S/R mephenytoin ratio in urine after an oral dose of 100 mg racemic mephenytoin by chiral GCFID method. The genotypes of twentysix among the 90 subjects were analyzed with identifying the wildtype(wt) gene and two mutations, CYP2C19m1 and CYP2C19m2 by PCR method. RESULTS: Of the 90 subjects eleven were identified as poor metabolizers with the S/R ratio of 095. Among the 26 genotyped subjects six were homozygous for wildtype (wt/wt); nine were homozygous for CYP2C19m1(m1/m1); seven were heterozygous for the CYP2C19m1(wt/m1); three were heterozygous for the CYP2C19m2(wt/m2); one was the heterozygous for the two defects (m1/m2). CONCLUSION: The result of CYP2C19 genotype analysis was in agreement with that of phenotype analysis. The frequency of PM by phenotype analysis was 122%.更多还原