新疆维吾尔族女性乳腺癌与HLA-DRB1基因多态性的关系及临床意义  

Association and clinical significance of HLA-DRB1 gene polymorphisms with breast carcinogenesis in Uyghur women

作　　者：木妮热.木沙江 古丽扎热叶.艾库拉 贺春钰[1] 木克代斯.拜克提亚尔 

机构地区：[1]新疆医科大学附属肿瘤医院乳腺放疗科,新疆乌鲁木齐830011

出　　处：《癌变．畸变．突变》2015年第5期366-369,共4页Carcinogenesis,Teratogenesis & Mutagenesis

基　　金：新疆维吾尔自治区自然科学基金(2013211A070)

摘　　要：目的:研究新疆维吾尔族女性乳腺癌的发生与人类白细胞抗原(HLA)DRB1等位基因多态性的关系,探讨乳腺癌的遗传易感性。方法:分别收集维吾尔族女性乳腺癌患者和健康人外周血标本196和230例,提取细胞基因组DNA,采用序列特异性引物聚合酶链反应(PCR-SSP)和毛细管电泳测序(CE)的方法进行HLA-DRB1基因多态性鉴定。结果:乳腺癌患者外周血DNA的HLA-2 2DRB1*01多态性频率显著高于健康对照(χ=10.180,OR=4.550,P<0.05),HLA-DRB1*16多态性低于对照(χ=4.792,OR=0.492,P<0.05),而其他位点多态性两组间的差异无统计学意义(P>0.05)。结论:维吾尔族女性乳腺癌的发生可能与HLA-DRB1等位基因多态性存在密切关系,对于揭示乳腺癌发病机制及临床诊断提供了客观依据。OBJECTIVE： To investigate the association of human leukocyte antigen（HLA） DRB1 gene polymorphisms with genetic susceptibility to breast cancer in Uyghur women. METHODS： Genomic DNA was isolated from peripheral blood of 196 patients with breast cancer and 230 healthy Uyghur women, HLA-DRB1 typing was performed by means of polymerase chain reaction-sequence-specific priming （PCR-SSP） and capillary electrophoresis sequencing （CE） method. RESULTS： The frequency of HLA- DRBI＊01 genotype in breast cancer was significantly higher than in the control group （x^2=10.180, OR=4.550, P〈0.05）, while the frequency of HLA-DRBI＊16 genotype was significantly lower than in the control group （x^2=4.792, OR=0.492, P〈0.05）. The frequencies of other HLA-DRB1 alleles did not show statistical significance between the two groups. CONCLUSION： Breast carcinogenesis in Uyghur women was closely associated with the allele polymorphisms of HLA-DRB1, which provides objective evidence for elucidating the molecular mechanism and clinical diagnosis for breast cancer.

关 键 词：乳腺癌 维吾尔族女性 人类白细胞抗原-DRB1 基因多态性 

分 类 号：R737.9[医药卫生—肿瘤]