新疆维吾尔族早发性乳腺癌患者锌指蛋白350基因外显子突变的检测  

Mutations in exon region of zinc finger protein 350 gene of early-onset breast cancer in Xinjiang Uygur women

作　　者：李双健[1] 孙刚[1] 任光辉[1] 马斌林[1] 

机构地区：[1]新疆医科大学附属肿瘤医院乳腺头颈外科,乌鲁木齐830011

出　　处：《中华实验外科杂志》2014年第5期960-963,共4页Chinese Journal of Experimental Surgery

基　　金：国家自然科学基金资助项目（81360391）;乌鲁木齐市高新技术产业开发区科研计划项目（Y2011025）;新疆自治区教育厅高校科研计划项目（XJEDU2011131）

摘　　要：目的探讨新疆地区维吾尔族（简称维族）女性早发性乳腺癌患者锌指蛋白350（ZNF350）基因外显子序列突变。方法维族早发性乳腺癌患者（发病年龄≤40岁）80例，收集其临床资料及血液标本，应用直接测序法对ZNF350基因外显子区域及侧翼序列检测，并预测错义突变位点对蛋白质功能的影响，分析其基因型与临床病理特征的关系。结果在80例维族早发性乳腺癌患者中，可见ZNF350基因外显子区段非同义突变4个，其中c．111G→A、c．1503A→T在SIFF和Polyphen软件预测中均显示为有害突变，并发现c．1503A→T位点与雌激素受体阳性率相关（P〈0．05）。结论维族早发性乳腺癌患者中ZNF350基因e．111G→A、e．1503A→T位点可能为致病变异，影响其蛋白的功能，而后者可能与维族乳腺癌患者临床化疗敏感性相关。Objective To investigate the mutations of zinc finger protein 350 （ZNF350） gene in its recognition sequence of Xinjiang Uygur women with early-onset breast cancer. Methods Eighty cases of Uygnr early-onset breast cancer patients were identitified by collectting clinical information and blood specimens, exon and flanking sequences were detected by direct sequencing, non-synonymous and synonymous variants were predicted for functional change, and the relationship between genotypes and pathological features were analyzed. Results Three nsSNPs （c. 197T→C, c. 1414T→C, c. 1503A→T） and one mis- sense mutation （c. 111G→A） were identitified. There was significant association between ArgS01Ser polymorphism and estrogen receptor （ER） status. Conclusion Four missense variants were identified in ZNF350 gent in Uygur patients with early-onset breast cancer, e. lllG→A and c. 1503A→T polymorphisms may affect the protein function of ZNF350. Arg501Ser polymorphism may be associated with clinical response to chemotherapy of breast cancer.

关 键 词：乳腺癌 锌指蛋白350基因 突变 维吾尔族 

分 类 号：R737.9[医药卫生—肿瘤]