新疆地区不同民族激素受体阳性乳腺癌患者CYP2D6基因多态性及拷贝数变异研究

目的:探讨新疆地区不同民族激素受体阳性乳腺癌患者CYP2D6基因多态性及拷贝数变异情况以指导临床合理用药。方法:选取2008年1月1日至2012年12月31日新疆医科大学附属肿瘤医院激素受体阳性乳腺癌患者253例，其中汉族126例、维吾尔族78例和哈萨克族49例，采用TaqMan实时荧光定量PCR技术和AccuCopyTM多重基因拷贝数检测技术进行CYP2D6基因多态性及拷贝数变异检测。结果:97.6%（247/253）的患者都检测到了CYP2D6等位基因多态性或拷贝数变异情况，最常见多态分布CYP2D6等位基因是*1、*2、*10，分布频率分别为0.577、0.320、0.462。CYP2D6的*2、*4、*10等位基因在汉族、维吾尔族及哈萨克族乳腺癌患者中分布频率分别为（0.023 8、0.038 4、0.042 9）、（0.031、0.038、0.163）、（0.635、0.372、0.184），差异有统计学意义。汉族、维吾尔族、哈萨克族乳腺癌患者CYP2D6代谢表型及拷贝数情况分布差异无统计学意义。结论:在新疆地区汉族、维吾尔族、哈萨克族激素受体阳性乳腺癌患者CYP2D6基因在代谢表型多态性及拷贝数变异情况方面未发现明显的民族差异性，但*2、*4、*10等位基因在不同民族间分布有差异，为他莫昔芬个体化治疗的进一步研究提供了一定依据。

Research of CYP2D6 gene polymorphism and copy number variation among hormone receptor positive breast cancer patients from different ethnic groups in Xinjiang

Objective:To investigate the polymorphism and copy number variation of CYP2D6 gene in different ethnic hormone receptor positive breast cancer patients in Xinjiang.Methods:Select 253 patients with hormone receptor-positive breast cancer in Xinjiang Medical University Affiliated Tumor Hospital from Janaury 1,2008 to December 31,2012,including the Han nationality patients 126 cases,78 patients with Uygur,Kazak patients in 49 cases.TaqMan Real-time fluorescence quantitative PCR technology and AccuCopyTM multigene copy number detection technology were used to detect CYP2D6 gene polymorphism and copy number variation detection.Results:Patients with 97.6%(247/253) detected the CYP2D6 allele polymorphism or copy number variation.The most common gene polymorphic distribution CYP2D6 allele was *1,*2,*10,their distribution frequency was 0.577,0.320 and 0.462 respectively.CYP2D6 * 2,*4,*10 alleles in patients with breast cancer of Han and Uygur and Kazak distribution frequency was(0.023 8,0.038 4,0.042 9),(0.031,0.038,0.163),(0.635,0.372,0.184) respectively.The difference was statistically significant.The distribution of CYP2D6 metabolic phenotype and copy number variation in the Han,Uygur and Kazakh breast cancer patients was not statistically significant.Conclusion:In the Xinjiang region,with hormone receptor-positive breast cancer,including the Han,Uygur and Kazak,CYP2D6 gene in metabolic phenotype polymorphism and copy number variation found no significant ethnic differences,but *2,*4,*10 alleles in the distribution of differences between different ethnic groups,for tamoxifen provides a certain basis for the further study of the individualized treatment.