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The p53 status in patients with common variable immunodeficiency

机译:常见可变免疫缺陷患者的p53状况

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Common variable immunodeficiency (CVID) comprises a heterogeneous group of primary antibody deficiencies with complex clinical and immunological phenotypes. A high risk for cancer has been described for some types of cancer among patients with CVID. Mutations in p53, a critical tumor suppressor gene, are one of the most common genetic alterations in human cancers, therefore contributes to the complex network of molecular events leading to tumor formation. This prompted us to investigate the incidence of p53 gene mutations in patients with CVID and evaluated the predictive risk for tumor development. We investigated the presence of p53 mutations in patients with CVID, tumor samples and in the surgical margins of 34 patients with head and neck cancer using single strand conformational polymorphism and sequencing analysis. We investigated the presence of p53 mutations in genomic DNA samples of 20 patients with CVID and 10 healthy controls using?polymerase chain reaction and heteroduplex analysis. None of the patients were found to have p53 gene mutations. Only one patient developed non-Hodgkin lymphoma (NHL) during nine years follow-up. P53 mutations was not also detected in tumor biopsy sample.?We found no statistically significant association between the presences of p53 mutations in patients with CVID.
机译:常见可变免疫缺陷症(CVID)包括具有复杂临床和免疫表型的异种一抗缺乏症。对于CVID患者中某些类型的癌症,已经描述了高癌症风险。 p53是一种关键的肿瘤抑制基因,是人类癌症中最常见的遗传变异之一,因此有助于形成导致肿瘤形成的分子事件的复杂网络。这促使我们调查CVID患者中p53基因突变的发生率,并评估了肿瘤发展的预测风险。我们使用单链构象多态性和测序分析研究了CVID患者,肿瘤样本以及34例头颈癌患者的手术切缘中p53突变的存在。我们使用聚合酶链反应和异源双链分析技术研究了20名CVID患者和10名健康对照的基因组DNA样本中p53突变的存在。没有患者被发现有p53基因突变。在9年的随访期间,仅一名患者发生了非霍奇金淋巴瘤(NHL)。在肿瘤活检样本中也未检测到P53突变。我们发现CVID患者中p53突变的存在之间无统计学意义的关联。

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