我国卵巢癌患者中PPP2R1A和PPP2R1B基因突变研究

发布时间：2019-02-14 08:14

【摘要】：目的：明确我国卵巢肿瘤患者的PPP2R1A基因及其同源PPP2R1B基因突变频率，为卵巢癌患者的临床诊断及治疗提供理论依据。方法：我们收集了251例卵巢癌不同亚型患者的石蜡切片组织，经提取总DNA，PCR扩增，以及PCR产物回收纯化后，，利用DNA测序仪进行序列分析。结果：1、原发性子宫内膜样卵巢癌中有1/37（2.7%）存在PPP2R1A体细胞杂合突变(c.771GT, p.W257C)，该突变样本来自一位同时合并有子宫内膜异位症的46岁患者，而其余250例样本均未发现PPP2R1A突变；2、所有的样本均未检测到PPP2R1B突变。讨论：1、我国卵巢肿瘤患者的PPP2R1A突变率低于欧美患者，提示这种差异可能是由于人群结构不同所引起；2、所有样本的检测结果均未发现PPP2R1B突变，这提示PPP2R1B突变可能没有参与卵巢癌的发病过程，这一结果与前期的研究相符。3、我们的研究结果表明：PPP2R1A和PPP2R1B基因突变在我国卵巢癌患者发病过程中所起的作用可能较小，然而这一推论还需更大数量的样品进行验证。
[Abstract]:Objective: to identify the mutation frequency of PPP2R1A gene and homologous PPP2R1B gene in ovarian cancer patients in China, and to provide theoretical basis for clinical diagnosis and treatment of ovarian cancer patients. Methods: the paraffin sections of 251 ovarian cancer patients with different subtypes of ovarian cancer were collected. After total DNA,PCR amplification and PCR product recovery and purification, sequence analysis was performed by DNA sequencer. Results: 1. One / 37 (2.7%) of the primary endometrial ovarian carcinomas had PPP2R1A somatic heterozygosity (c.771GT, p.W257C) from a 46-year-old patient with endometriosis at the same time. No PPP2R1A mutation was found in the other 250 samples. 2. No PPP2R1B mutation was detected in all samples. Discussion: 1, the mutation rate of PPP2R1A in Chinese ovarian tumor patients is lower than that in European and American patients, which suggests that the difference may be caused by the different population structure; 2. No PPP2R1B mutation was found in all samples, suggesting that PPP2R1B mutation may not be involved in the pathogenesis of ovarian cancer. Our results suggest that mutations in PPP2R1A and PPP2R1B genes may play a smaller role in the pathogenesis of ovarian cancer in China, but this inference needs to be verified by a larger number of samples.
【学位授予单位】：南昌大学
【学位级别】：硕士
【学位授予年份】：2014
【分类号】：R737.31

【共引文献】