关键词: 乳腺肿瘤;DNA，血浆;突变，p53基因

    摘 要:目的 探讨血浆循环核酸p53基因突变检测的可行性，研究乳腺癌患者循环核酸p53基因突变对于乳腺癌发生、发展和预后估计的临床意义. 方法 应用聚合酶链反应(PCR)扩增p53基因外显子5～8，并用变性高效液相色谱技术(DHPLC)分析产物突变情况，再与各生物学参数进行了相关研究. 结果 33例患者中14例(42.4%)p53基因突变，且突变率与组织分化级别、ER阴性显著相关(P<0.05)，与临床分期和淋巴结及远处转移情况无关. 结论 DHPLC可作为一种快速简便的基因突变检测手段，p53基因突变在乳腺癌循环核酸中有较高的检出率并预示肿瘤的恶性程度，血浆基因突变有望成为简便的预后参考指标.

    Plasma DNA p53gene mutation in primary breast cancer patients

    LU Shao-Min，WANG Hai-Dan，SI Xiao-Ming，ZHANG Yan-Jun，ZHANG Liang，PAN Bo-Rong，REN Jun

    Center of Clinical Oncology，Xijing Hospital，Fourth Military Medical University，Xi'an710033，China

    Keywords:breast neoplasms;plasma DNA;p53gene;muta-tion

    Abstract:AIM To evaluate the presence of tumor DNA in plasma and study the clinical significance of p53gene muta-tions associated with the development and prognostic signifi-cance in breast cancer.METHODS Extraction of DNA from patients'plasma and the target DNA fragments were ampli-fied by PCR.The production were analyzed by denaturing high performance liquid chromatography(DHPLC).The mu-tation status obtained by DHPLC was confirmed by DNA se┐quencing.RESULTS The total p53gene exon5to exon8mutation rate was42.4%(14/33).There were statistically significant associations between p53gene mutation and histo-logical grade ......