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1. 第三军医大学基础医学部生物化学与分子生物学教研室
2. 第三军医大学大坪医院野战外科研究所妇产科
纸质出版日期:2011,
网络出版日期:2011-04-30,
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吴庚泽, 郑英如, 张立, 等. 宫颈癌中端粒酶抑制因子PinX1基因变异位点分析[J]. 陆军军医大学学报, 2011,33(8):826-829.
WU GENGZE, ZHENG YINGRU, ZHANG LI, et al. Mutation site analysis of telomerase inhibitor PinX1 gene in cervical carcinoma. [J]. Journal of army medical university, 2011, 33(8): 826-829.
目的 探讨端粒酶抑制因子PinX1(Pin2/TRF1-interacting protein X1)在宫颈癌细胞系、正常宫颈组织标本、宫颈癌组织标本中的变异情况。 方法 采用3种宫颈癌细胞系(加以3种淋巴瘤细胞系、1种乳腺癌细胞系作为参照)、28例正常宫颈组织及52例宫颈癌组织标本。提取基因组DNA为模板,PCR扩增PinX1基因全部7个外显子及其部分侧翼序列,PCR纯化产物直接测序从而检测PinX1基因的变异情况,SPSS统计学软件进行数据分析。 结果 于宫颈癌细胞系中发现3个突变位点,于52例宫颈癌组织中发现5个变异位点,其中位于第7外显子的Ser
254
Cys(23.1%)及位于第2内含子的IVS2+18 G→A(51.9%)变异率与正常宫颈组织相比有显著差异(
P
<
0.05),位于第2内含子的1个变异位点IVS2+64 C→A(9.3%)为首次报道。 结论 在宫颈癌中,可能存在PinX1基因的变异新位点,对PinX1基因变异的研究,可能为宫颈癌的诊断、防治和个体化诊疗提供潜在的新靶标。
Objective To investigate the mutation of telomerase inhibitor Pin2/TRF1-interacting protein X1 (PinX1) gene in cervical carcinoma cell lines
healthy cervical tissues
and cervical carcinoma tissue specimens. Methods Three cervical carcinoma cell lines HeLa
C-33A
and CaSki (lymphoma cell lines Namalwa
Raji
and Daudi
and breast cancer cell line MCF-7 as controls)
twenty-eight healthy cervical tissues
and fifty-two cervical carcinoma tissue specimens were selected for PinX1 gene mutation analysis. With genome DNA extracted from the above cells and specimens as
templates
seven extrons and part flanking sequences of PinX1 gene were amplified through PCR. Purified PCR products were sequenced directly to detect PinX1 gene mutation. The data were analyzed with SPSS. Results Three mutation sites were detected in cervical carcinoma cell lines. Five mutation sites were detected in cervical carcinoma tissues
among which Ser
254
Cys in extron 7 and IVS2+18 G→A in intron 2 had mutation rates of 23.1% and 51.9%
respectively
significantly different from those of healthy cervical tissues (
P
<
0.05). Mutation site IVS2+64 C→A (mutation rate=9.3%) in intron 2 was first reported. Conclusion Unknown mutation sites of PinX1 gene may exist in cervical carcinoma. The study about PinX1 gene mutation may reveal new targets for diagnosis
prevention
and personalized treatment of cervical carcinoma.
PinX1基因,宫颈癌,基因变异
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