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目的了解谷胱甘肽-S-转移酶M1(GSTM1)和T1(GSTT1)基因多态性在中国汉族儿童中的分布特点,为临床针对不同基因型个体化药物治疗提供理论基础。方法选择首都医科大学附属北京儿童医院健康查体汉族儿童的血样,提取DNA。应用PCR法检测GSTM1和GSTT1基因型,并判断代谢表型。检索PubM ed等数据库,获得亚洲人群、黑种人和高加索人群GSTM1和GSTT1基因多态性分布的数据,与本研究分析人群数据进行比较,分析基因多态性的种族差异。结果 786份研究样本纳入分析。①中国汉族分析人群GSTM1和GSTT1完全缺失基因型/慢代谢型(*0/*0)的频率分别为59.3%(466/786例)和58.4%(459/786例);单拷贝缺失基因型/中间代谢型(*1/*0)的频率分别为34.0%(267/786例)和35.1%(276/786例);未缺失基因型/快代谢型(*1/*1)的频率分别为6.7%(53/786例)和6.5%(51/786例)。②GSTM1和GSTT1基因多态性分布互相独立,无明显关联。③GSTM1和GSTT1基因多态性无显著性别差异。④本研究汉族分析人群GSTM1和GSTT1基因多态性分布与亚洲人群较为接近,与黑种人和高加索人群有显著差异。结论 GSTM1和GSTT1基因在中国汉族儿童中以完全缺失基因型/慢代谢型(*0/*0)为主,具有种族特异性,为不同基因型个体制定合适的用药方案提供了参考依据。
Objective To investigate the distribution of glutathione-S-transferase M1 (GSTM1) and T1 (GSTT1) gene polymorphisms in Chinese Han children and to provide a theoretical basis for the clinical treatment of individualized drugs with different genotypes. Methods Blood samples were collected from healthy children of Beijing Children’s Hospital Affiliated to Capital Medical University to extract DNA. The genotypes of GSTM1 and GSTT1 were detected by PCR and the metabolic phenotypes were determined. We searched PubMed database for the distribution of GSTM1 and GSTT1 gene polymorphism in Asian, black and Caucasian populations, compared with the population data in this study, and analyzed race differences in gene polymorphisms. Results 786 study samples were included in the analysis. ① The frequency of genotype / slow metabolism (* 0 / * 0) of GSTM1 and GSTT1 in Chinese Han population were 59.3% (466/786) and 58.4% (459/786), respectively; the single copy deletion genotype / Metabolic (* 1 / * 0) frequencies were 34.0% (267/786) and 35.1% (276/786), respectively; the frequencies of genotypes / fast metabolites (* 1 / * 1) 6.7% (53/786 cases) and 6.5% (51/786 cases) respectively. ② GSTM1 and GSTT1 gene polymorphisms were independent of each other, no significant correlation. ③GSTM1 and GSTT1 gene polymorphisms showed no significant gender differences. ④ The distribution of GSTM1 and GSTT1 gene polymorphisms in Chinese Han population was similar to that of Asian population, but significantly different from that of black people and Caucasians. Conclusion The GSTM1 and GSTT1 genes are characterized by complete deletion genotype / slow metabolism (* 0 / * 0) in Chinese Han children, which is racially specific and provides a reference for formulating appropriate drug regimens for individuals with different genotypes.