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首页> 外文期刊>World Journal of Gastroenterology >Genetic variability of CYP2B6 polymorphisms in four southern Chinese populations
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Genetic variability of CYP2B6 polymorphisms in four southern Chinese populations

机译：中国南方四个人群CYP2B6基因多态性的遗传变异

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摘要

AIM: To investigate the genotype and allelic frequencies of Cytochrome P450 2B6 polymorphisms in four southern Chinese populations. METHODS: DNA was obtained from blood samples from Han Chinese from Hong Kong and three minority groups, the Wa, Bulang and Lahu from Yunnan in southern China. Genotyping was performed using real-time PCR and confirmed by direct sequencing. RESULTS: A total of 507 subjects from southern China were studied. Results showed there is a high prevalence of 516G > T (34.5%) in ethnic Chinese compared to literature reports on other Asian populations and Caucasians. The frequency of the 516TT genotype is higher in the Han majority (23.1%) than in three other ethnic minority groups (i.e., 7.4%, 9.1% and 15.8%) in southern China. CONCLUSION: This was the first study to document the spectrum of CYP2B6 allelic variants and genotypes in a southern Chinese population. The 516G > T allele is associated with a defective metabolism of efavirenz (EFV), which therefore may predispose to drug toxicity. Treatment regimens for human immunodeficiency virus (HIV) and heroin addiction may need to be optimized in different populations because of the marked variability of the key metabolizing enzyme.
机译：目的：研究中国南方四个地区细胞色素P450 2B6基因多态性的基因型和等位基因频率。方法：从香港汉族和中国南方云南的三个少数民族，groups族，布朗族和拉hu族的血液样本中获得DNA。使用实时PCR进行基因分型并通过直接测序进行确认。结果：共研究了来自中国南部的507名受试者。结果显示，与其他亚洲人口和高加索人的文献报道相比，华人人群中516G> T（34.5％）的患病率较高。汉族占多数的516TT基因型频率较高（23.1％），比华南其他三个少数民族（即7.4％，9.1％和15.8％）高。结论：这是第一个研究CYP2B6等位基因变异和基因型在中国南方人群中的谱的研究。 516G> T等位基因与依非韦伦（EFV）的新陈代谢缺陷有关，因此可能易引起药物毒性。由于关键代谢酶的显着变异性，可能需要在不同人群中优化人类免疫缺陷病毒（HIV）和海洛因成瘾的治疗方案。

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