| 中国人S－美芬妥英羟化酶的两种突变基因型 |
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| 引用本文： | 谢红光,肖洲生,黄松林,许振华,何楠,卢义钦,夏晖,周宏灏. 中国人S－美芬妥英羟化酶的两种突变基因型[J]. 中华医学遗传学杂志, 1996, 0(3) |
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| 作者姓名： | 谢红光 肖洲生 黄松林 许振华 何楠 卢义钦 夏晖 周宏灏 |
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| 作者单位： | 湖南医科大学遗传药理学研究所 |
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| 基金项目： | 国家自然科学基金,美国中华医学基金 |
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| 摘 要： | 为了查明Ｓ－美芬妥英羟化酶（ＣＹＰ２Ｃ１９）在中国人群中的突变基因型，采用聚合酶链式反应（ＰＣＲ）结合限制性内切酶技术分析了１９例Ｓ－美芬妥英弱代谢者（ＰＭ）和５５例强代谢者（ＥＭ）的基因型。结果显示，表型ＰＭ的基因型是ｍ１／ｍ１（７９％）和ｍ１／ｍ２（２１％），ＥＭ中杂合子（ｍ１／ｗｔ和ｍ２／ｗｔ）占５４．５％。表明在中国人中ＣＹＰ２Ｃ１９等位基因至少存在有两种突变基因型（ｍ１和ｍ２）。
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| 关 键 词： | S－美芬妥英羟化酶，基因型，表型，聚合酶链式反应 |
GENOTYPING OF S-MEPHENYTOIN HYDROXYLASE IN A CHINESE POPULATI0N |
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| Xie Hongguang, Xiao Zhousheng, Huang Songlin,et al.. GENOTYPING OF S-MEPHENYTOIN HYDROXYLASE IN A CHINESE POPULATI0N[J]. Chinese journal of medical genetics, 1996, 0(3) |
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| Authors: | Xie Hongguang Xiao Zhousheng Huang Songlin et al. |
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| Affiliation: | Xie Hongguang, Xiao Zhousheng, Huang Songlin, et al. |
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| Abstract: | Seventy-four unrelated healthy Chinese volunteers were randomly selected for genotyping of S-mephenytoin hydroxylase(CYP2C19). Detection of the wild-type(wt), and defective CYP2C19 m1 and CYP2C19 m2 alleles was performed by PCR-restriction enzyme analysis. The genotypes of the defective alleles were found to be m1/m1 and m1/m2.A high frequency 54.5% of heterozygote(wt/m1 or wt/m2) exists in the Chinese population. The CYP2C19 m1 alleles account for 79% of the defective alleles while the CYP2C19 m2 occurs in the 21% of the mutative alleles. The mutation of CYP2C19 m1 and m2 was detected in this population. |
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| Keywords: | S-mephenytoin hydroxylase Genotype Phenotype Polymerase chain reaction |
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