Genetic variability of CYP2B6 polymorphisms in four southern Chinese populations

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 Hah 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.

瞄准：在四张南部的中国人口调查遗传型和细胞色素 P450 2B6 多型性的突变而产生之遗传的频率。方法：DNA 从香港和三个少数从汉汉语从血样品被获得从在南部的中国的云南的组， Wa， Bulang 和拉枯族。Genotyping 用即时 PCR 被执行并且由直接定序证实了。结果：从南部的中国的 507 个题目的一个总数被学习。结果证明用与另外的亚洲人口和白种人上的文学报告相比的种族汉语有 516G > T (34.5%) 的高流行。516TT 遗传型的频率比在三个另外的种族少数组在汉多数(23.1%) 是更高的(即， 7.4% ， 9.1% 和 15.8%) 在南部的中国。结论：这是第一研究在一张南部的中国人口记录 CYP2B6 突变而产生之遗传的变体和遗传型的光谱。516G > T 等位基因与 efavirenz (EFV ) 的有缺点的新陈代谢被联系，它可以因此预先安排到药毒性。因为关键使人的免疫不全病毒(HIV ) 和海洛因嗜好产生代射变化酶的显著可变性，为的处理政体可以需要在不同人口被优化。