宫颈癌组织中HPV16型E6/E7序列突变分析

目的：分析泉州地区宫颈癌患者HPV16型E6/E7序列突变情况，探讨其与宫颈癌发生的相关性。方法：取35例HPV16阳性的宫颈癌组织标本，采用PCR法扩增E6、E7全长基因。PCR产物直接测序，并与野生型序列进行比对。分析E6、E7基因的变异情况。结果：E6、E7基因的突变率分别为91.4%和89.2%。E6基因中有10个位点为错义突变， 2个位点为无义突变。氨基酸突变频率最高的是D25E（77.1%）。E7基因中共发现5个突变位点，有2个位点为错义突变，3个位点为无义突变，突变频率最高是N29S和无义突变T846C（均为75.0%）。结论：HPV16 E6、E7基因中最常见突变位点D25E、N29S和T846C可能与宫颈癌的发生密切相关，可为研究针对中国人群的HPV疫苗提供一定的线索。

Analysis of mutations in the E6/E7 genes of human papillomavirus type 16 cervical cancer isolates

To investigate mutations in E6/E7 genes of human papillomavirus type 16 (HPV16) in the patients with cervical cancer in Quanzhou and to explore the potential association between the mutations and cervical cancer, 35 cases of cervical cancer tissue with HPV 16 positive were included in this study. DNA samples were amplified by polymerase chain reation (PCR). Products were directly sequenced and the results were compared with the prototype sequence. It was found that the prevalences of HPV 16 E6 and E7 variants were 91.4% and 89.2% respectively. 10 mis-sense variantions and 2 silent variantions were identified in E6. The hot spot of E6 nucleotide mutation was D25E, with a frequency of 77.1%. A total of 5 mutation spots was founded in E7, including 2 mis-sense and 3 silent variations. Both N29S and T846C were the most common mutations, with the same rate of 75.0%. It is suggested that the mutation of D25E, N29S and T846C were likely to be associated with oncogenisis of cervical cancer. This founding may provide valuable information for HPV vaccine development in China.