脑胶质瘤易感基因PLA2G4C的短串联重复序列多态性的初步研究

Study on the polymorphysims of the susceptibility gene PLA2G4C in patients with glioma

目的运用分子生物学方法筛查脑胶质瘤易感基因PLA2G4C的短串联重复序列的多态性，并进一步确定这些多态性与脑胶质瘤发病的关系。方法以天坛医院为主收集入院脑胶质瘤病人和对照组的血液及肿瘤组织，对肿瘤和血液标本分别进行DNA提取，对基因PLA2G4C的特定片段进行PCR扩增，利用变性高效液相色谱及琼脂糖凝胶电泳等技术进行比较研究，推测突变的意义。结果本组共收集标本223份，通过琼脂糖凝胶电泳检测到了短串联重复序列，通过变性高效液相色谱技术检测到了纯合峰及杂合峰。结论PLA2G4C的短串联重复序列多态性与胶质瘤的发病有一定关系，并可通过血液标本进行此多态性的筛查。DHPLC是一种高效、经济、简便可靠的基因多态性的筛选方法。

Objective To screen the polymorphysims of glioma relative gene PLA2G4C with molecular-biological methods and find the relationship between the polymorphysims and pathogenesis of glioma. Methods The blood and glioma samples were mainly collected from the patients in Tiantan hospital. DNA was extracted from these samples and several special fragments of tumor relative genes such as PLA2G4C were amplified by PCR. Agarose gel eleetrophoresis and DHPLC were used to screen gene polymorphysim. Results This study included 223 blood samples. Short tendem repeats were found by Agarose gel. Heterogenous and homogenous peak were found in PLA2G4C gene with the method of DHPLC. Conclusions Short Tandem Repeat in PLA2G4C gene, which can be screened from blood samples, relates to the pathogenesis of glioma. DHPLC in combination with direct sequencing is an effective, economical and reliable method to screen gene polymorphism.