目的:研究乳腺癌组织中RIZ1启动子甲基化状态及与临床、病理指标之间的关系,并探讨该甲基化状态与RIZ1 mRNA表达的相关性。方法:应用甲基化特异性PCR法(methylation specific PCR,MSP)检测人乳腺癌组织和相应癌旁组织及乳腺良性肿瘤组织...目的:研究乳腺癌组织中RIZ1启动子甲基化状态及与临床、病理指标之间的关系,并探讨该甲基化状态与RIZ1 mRNA表达的相关性。方法:应用甲基化特异性PCR法(methylation specific PCR,MSP)检测人乳腺癌组织和相应癌旁组织及乳腺良性肿瘤组织中RIZ1启动子甲基化状态,结合患者的临床与病理资料分析结果,并结合半定量RT-PCR法检测结果加以分析。结果:34例乳腺癌标本中RIZ1启动子甲基化阳性率为44.1%(15/34),该甲基化状态与患者年龄、肿瘤TNM分期、有无淋巴结转移、雌激素受体(ER)是否阳性无相关性(均为P>0.05)。RIZ1启动子甲基化标本中的RIZ1 mRNA表达水平低于未甲基化标本者,两者差异具有显著性(P<0.05),RIZ1表达降低与其启动子高甲基化状态之间有相关性(P<0.05)。结论:RIZ1基因启动子高甲基化是乳腺癌中常见的分子病理学改变之一;RIZ1 mRNA表达与RIZ1启动子高甲基化呈负相关。展开更多
AIM. To study the frameshift mutations of the retinoblastoma protein-interacting zinc finger gene RIZin gastric cancer with microsatellite instability, and to identify two coding polyadenosine tracts of RIZ.METHODS: F...AIM. To study the frameshift mutations of the retinoblastoma protein-interacting zinc finger gene RIZin gastric cancer with microsatellite instability, and to identify two coding polyadenosine tracts of RIZ.METHODS: Frameshift mutations at (A)8 and (A)9 tracts of RIZ were detected in 70 human gastric cancer (HGC)specimens by DHPLC and DNA sequencing. Microsatellite instability (MSI) status was assessed by two mononucleotide markers, BAT26 and BAT25, by means of denaturing highperformance liquid chromatography (DHPLC).RESULTS: In 70 HGC samples, 8 (11.4%) were found positive for instabilities at BAT26 and BAT25. In 7 of the 8 cases with instabilities at both BAT26 and BAT25 (MSI-H), 1 was unstable at BAT26 but stable at BAT25. Frameshift mutations were identified in 4 (57.1%) of the 7 samples with MSI-H in the (A)9 tract of RlZwithout mutations in the (A)8 tract.In contrast, frameshift mutations were found in neither of the polyadenosine tracts in 63 samples of MSI-L or MSI stable tumors. Pro704 LOH detection in 4 cases with frameshift mutations did not find LOH in these cases.CONCLUSION: Frameshift mutations of RIZmay play an important role in gastric cancers with MSI.展开更多
基金Supported by the Major State Basic Research Development Programof the Ministry of Science and Technology of China,No.G 1998051203,and Beijing Municipal Commission Foundation for Science andTechnology,No.H020920030130
文摘AIM. To study the frameshift mutations of the retinoblastoma protein-interacting zinc finger gene RIZin gastric cancer with microsatellite instability, and to identify two coding polyadenosine tracts of RIZ.METHODS: Frameshift mutations at (A)8 and (A)9 tracts of RIZ were detected in 70 human gastric cancer (HGC)specimens by DHPLC and DNA sequencing. Microsatellite instability (MSI) status was assessed by two mononucleotide markers, BAT26 and BAT25, by means of denaturing highperformance liquid chromatography (DHPLC).RESULTS: In 70 HGC samples, 8 (11.4%) were found positive for instabilities at BAT26 and BAT25. In 7 of the 8 cases with instabilities at both BAT26 and BAT25 (MSI-H), 1 was unstable at BAT26 but stable at BAT25. Frameshift mutations were identified in 4 (57.1%) of the 7 samples with MSI-H in the (A)9 tract of RlZwithout mutations in the (A)8 tract.In contrast, frameshift mutations were found in neither of the polyadenosine tracts in 63 samples of MSI-L or MSI stable tumors. Pro704 LOH detection in 4 cases with frameshift mutations did not find LOH in these cases.CONCLUSION: Frameshift mutations of RIZmay play an important role in gastric cancers with MSI.
