摘要
目的:探讨宫颈鳞癌与PIK3CA基因高频突变点E542K、E545k和H1047R的关系。方法:随机选择50例病理确诊宫颈鳞癌组织作为实验组,患者本人的外周血作为对照组,提取其基因组DNA,用巢式-PCR方法扩增PIK3CA基因exon9和exon20基因片段并测序分析。结果:实验组均发现exon9 E542K位点突变,相应外周血DNA检测也发现相同突变,PI3KCA基因与定位染色体22q11.2的Cat Eye Syndrome基因片段具有高度重合现象。改变引物设计发现50例样本中E542K和E545k位点分别发现2例突变,H1047R位点未发现突变。对照组未见突变。结论:宫颈鳞癌组织中PIK3CA基因exon9(E542K和E545k)和exon20 H1047R位点在其它实体肿瘤中具有较高突变频率的PI3KCA基因,而在宫颈鳞癌中的突变率较小。
Objective： To investigate the relationship between squamous cervical carcinoma and high frequency PIK3CA gene point mutations located at E542K,E545k and HI047R points. Methods： Fifty primary squamous cervical carcinoma samples were obtained from the cervical cancer tissues which were confirmed by pathologists, and the DNA was extracted from cancer tissues and the matching lymphocytes in peripheral blood samples were used as the source of normal DNAs. The exon9 and exon20 of PIK3CA genes were amplified by nest-PCR with primers and then analyzed. Results： The mutation in exon9 E.542K was found in all the randomly selected 50 eases of cervical cancer samples, and the same detections were performed in control group. A high degree overlap phenomenon between PI3KCA and Cat Eye Syndrome gene fragments located on chromosome 22q11.2 was detected in further research. Finally, we found that 2 of 50 samples had mutations points at E.542K or E545k of exon9 after changing the primers. There was no mutations detected in exon20 and in the control group. Conclusion： The results suggest that the rate of mis-sense mutations of PIK3CA genomic sequences of exon9 （EA42K and E545k） and exon20 H1047R in cervical cancer is low,although there are high frequencies in other solid tumors.
出处
《肿瘤预防与治疗》
2010年第5期367-370,共4页
Journal of Cancer Control And Treatment
基金
广西研究生教育创新计划(2007105981002M10)
四川省医学重点学科建设项目
