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目的 N-乙酰基转移酶-2(NAT2)和细胞色素氧化酶P450 2EI(CYP2E1)在药物的代谢过程中起重要的作用。该研究旨在了解NAT2、CYP2E1的基因多态性及其代谢表型在中国汉族儿童中的分布,为实现药物的个体化治疗提供参考依据。方法应用聚合酶链式反应并测序的方法检测341例中国汉族儿童(年龄0～14岁,男211例,女130例)NAT2、CYP2E1的重要SNPs基因型,并判定其代谢表型。结果在中国汉族儿童中,NAT2的7个SNPs(rs1801279、rs1041983、rs1801280、rs1799929、rs1799930、rs1208、rs179993)基因型均以野生型为主;NAT2代谢表型以快代谢型的频率最高(61.3%),其次是中间/慢代谢型(34.1%)。CYP2E1的4个重要SNPs基因型(rs2031920、rs3813867、rs6413432、rs72559720)被命名为:CYP2E1*5、*6、*2,均以野生型为主,野生型频率分别为:61.3%、60.1%、99.4%;由于CYP2E1基因型和代谢表型的关系还未明确,未对其进行代谢表型分型。结论 NAT2基因在中国汉族儿童中的分布以野生型/快代谢型为主,CYP2E1基因以野生型为主,基因型/代谢表型在中国汉族儿童中的多态性分布为药物的个体化治疗提供参考依据。
Objective N-acetyltransferase-2 (NAT2) and cytochrome oxidase P450 2EI (CYP2E1) play an important role in the metabolism of drugs. The purpose of this study is to understand the distribution of NAT2 and CYP2E1 gene polymorphisms and their metabolic phenotypes in Chinese Han children and to provide a reference for the individualized treatment of drugs. Methods The SNP genotypes of NAT2 and CYP2E1 in 341 Chinese Han children (0-14 years old, 211 males and 130 females) were detected by polymerase chain reaction and sequencing, and their metabolic phenotypes were determined. Results The genotypes of seven SNPs in NAT2 were mainly wild type in Chinese Han children. The genotypes of NAT2 metabolic phenotype were the highest (61.3% ), Followed by intermediate / slow metabolism (34.1%). The four major SNPs genotypes of CYP2E1 (rs2031920, rs3813867, rs6413432, rs72559720) were named as: CYP2E1 * 5, * 6, * 2, which were all wild type. The frequencies of wild type were 61.3%, 60.1% 99.4%. Because the relationship between the CYP2E1 genotype and the metabolic phenotype has not been clarified, the phenotype of CYP2E1 is not classified. Conclusion The distribution of NAT2 gene in Chinese Han children is mainly wild type and fast metabolizing type. The major gene of CYP2E1 is wild type. The polymorphism of genotype / metabolic phenotype in Chinese Han children is the individualized treatment of drugs Provide a reference basis.