中文摘要：

背景与目的：近年来,表观遗传学研究已经成为癌症研究的一个新方向。大量研究结果显示,表观遗传修饰的异常改变与癌症有着十分密切的联系,全基因组范围内的表观遗传修饰改变已经成为癌症的新标志。该研究旨在探讨膀胱癌缺失基因1（deleted in bladder cancer 1,DBC1）启动子甲基化与新疆维吾尔族妇女子宫颈癌的关系及与人类乳头瘤病毒（human papillomavirus,HPV）感染的相关性,分析其能否作为高敏感性及特异性的工具用于子宫颈癌筛选。方法：用聚合酶链反应（polymerase chain reaction,PCR）方法对43例正常子宫颈组织、35例子宫颈上皮内瘤样变（cervical intraepithelial neoplasia,CIN）组织以及54例子宫颈癌组织进行HPV16、HPV18感染的检测;运用甲基化特异性PCR方法检测上述组织DBC1基因启动子甲基化状况;采用实时荧光定量聚合酶链反应（real-time fluorescent quantitative polymerase chain reaction,RTFQ-PCR）方法检测10例甲基化阴性的正常子宫颈组织和10例甲基化阳性的子宫颈癌组织中DBC1基因m RNA表达情况。结果：正常子宫颈组织、CIN组织及子宫颈癌组织中HPV16的感染率分别为18.6%、34.3%和68.5%;HPV18的感染率分别为2.3%、8.6%和16.7%;DBC1基因发生甲基化率分别为23.3%、40.0%和87.0%;在79例高级别宫颈损伤及子宫颈癌样本中,其中50例HPV16/18感染阳性,29例HPV16/18感染阴性;阳性组中DBC1基因发生甲基化率88.0%,阴性组甲基化率为55.2%（P〈0.05）;10例甲基化阳性子宫颈癌组织中DBC1基因m RNA表达水平明显低于10例甲基化阴性正常子宫颈组织（P〈0.05）。结论：DBC1基因甲基化可能作为新疆维吾尔族妇女子宫颈癌的分子标志物,结合HPV16/18感染检测有助于子宫颈癌的诊断。

英文摘要：

Background and purpose： In recent years, epigenetics research has become a new direction of cancer research. A large number of results have shown that the abnormal changes of epigenetic modifications have close connection with cancer. Genome-wide epigenetic modifications have become new markers for cancer. This study aimed to investigate the methylation of the promoter of DBC1 gene in cervical cancer tissues of Uyghur women in Xinjiang, to explore the correlation between the gene methylation and the infection of HPV, and to evaluate whether it can be used as a tool with high sensitivity and specificity for cervical cancer screening. Methods： This study detected the infection of HPV16, 18 in 43 normal cervical tissues, 35 cervical intraepithelial neoplasia tissues and 54 cervical cancer tissues using the polymerase chain reaction （PCR） method. The methylation of the promoter of DBC1 gene in above-mentioned tissues was detected by the methylation-specific PCR method. The expression of DBC1 at mRNA level was measured by real-time fluorescent quantitative polymerase chain reaction （RTFQ-PCR） in 10 methylation-negative normal cervical tissues and 10 methylation-positive cervical cancer tissues. Results： In normal cervical tissues, CIN tissues and cervical cancer tissues, the infection ratios of HPV16 were 18.6%, 34.3% and 68.5%, respectively; the infection ratios of HPV18 were 2.3%, 8.6% and 16.7%, respectively; and the methylation ratios of DBC1 gene were 23.3%, 40.0%, 87.0%, respectively. In 79 highgrade squamous intraepithelial lesions （CIN Ⅱ and Ⅲ） and cervical cancer tissues, 50 of 79 were infected with HPV16/18, while 29 of 79 were negative. The methylation ratio of DBC1 gene was 88.0% in HPV 16/18 infection positive group while the methylation ratio was 55.2% in negative group （P〈0.05）. The expression ofDBC1 gene at mRNA level in 10 methy- lation-：positive cervical cancer tissues was significantly lower than that in the 10 methylation-negative normal cervical tissues （P〈0.05）