土耳其人群 CYP2D6 基因突变等位基因的频率。

The frequencies of mutated alleles of CYP2D6 gene in a Turkish population.

机构信息

University of Cukurova, Faculty of Medicine, Department of Forensic Medicine, Adana, Turkey.

出版信息

Forensic Sci Int. 2012 Oct 10;222(1-3):332-4. doi: 10.1016/j.forsciint.2012.07.012. Epub 2012 Aug 19.

DOI:10.1016/j.forsciint.2012.07.012

Abstract

Allele and genotype frequency distribution of CYP2D6*3, *4, *5, *6 and 10 variants were analyzed in blood samples of 100 unrelated healthy individuals by Real-Time PCR. The allele frequencies of CYP2D63(A2549del), *4(G1846A), *6(T1707del) and 10(C100T) were 1%, 10%, 2.5% and 14.5% respectively, while allele frequency of CYP2D65 was 3% of the subjects tested. Extensive, poor and intermediate metabolizer (EM, PM, IM) genotype frequencies were 63%, 4% and 12%, respectively. CYP2D6 gene duplication was 4%. Our results show that the frequencies of the mutated alleles of CYP2D6 in Turkish populations are similar to some European populations. 4% of Turkish people who have two nonfunctional defective allele are a high risk group and 12.5% of Turkish people who have two decreased functional defective allele or one normal and one non functional defective allele were also in the risk group. Findings of this study demonstrate the importance of genetic variation in drug intoxicants.

摘要

通过实时 PCR 分析了 100 名无关健康个体血液样本中 CYP2D6*3、*4、5、6 和10 变异的等位基因和基因型频率。CYP2D63(A2549del)、4(G1846A)、6(T1707del)和10(C100T)的等位基因频率分别为 1%、10%、2.5%和 14.5%，而 CYP2D65 的等位基因频率为测试对象的 3%。广泛、差和中间代谢物（EM、PM、IM）基因型频率分别为 63%、4%和 12%。CYP2D6 基因重复率为 4%。我们的结果表明，土耳其人群 CYP2D6 突变等位基因的频率与一些欧洲人群相似。4%的土耳其人有两个无功能缺陷的等位基因，属于高风险组，12.5%的土耳其人有两个降低功能缺陷的等位基因或一个正常和一个无功能缺陷的等位基因也属于风险组。本研究的结果表明了遗传变异在药物中毒中的重要性。