• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>World Journal of Gastroenterology >Novel genetic variations of the p53R2 gene in patients with colorectal adenoma and controls.
【24h】

Novel genetic variations of the p53R2 gene in patients with colorectal adenoma and controls.

机译：大肠腺瘤和对照患者中p53R2基因的新遗传变异。

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

AIM: p53-Inducible ribonucleotide reductase small subunit 2 (p53R2) encodes a 351-amino-acid peptide, which catalyzes conversion of ribonucleoside diphosphates to the corresponding deoxyribonucleotides required for DNA replication and repair. A recent study reported that a point mutation (G/T) in the p53 binding sequence in a colon cancer cell line completely impaired p53R2 protein activity. METHODS: We screened the p53R2 gene coding regions and a regulatory region which contains a p53 binding sequence in 100 patients with colorectal adenoma and 100 control subjects using PCR, cold SSCP, and direct DNA sequencing. RESULTS: Although we did not identify genetic variation in all nine exons, four regulatory-region variants were found, of which three were single nucleotide polymorphisms (SNPs) (nt 1 789 C/G, nt 1 928 A/G, 1 933 T/C), and one was 20 bp insertion which replaced a ATTTT between nt 1 831 and 1 835. Additionally, we determined the frequency of these p53R2 variants in a recently concluded case-control study of incident sporadic colorectal adenomas (163 cases and 210 controls). CONCLUSION: Although more detailed functional characterizations of these polymorphisms remain to be undertaken, these polymorphic sites may be useful for identifying alleles associated with mis-splicing, additional transcript factors and, more generally, in cancer-susceptibility association studies.
机译：目的：p53诱导型核糖核苷酸还原酶小亚基2（p53R2）编码一个351个氨基酸的肽，该肽催化核糖核苷二磷酸转化为DNA复制和修复所需的相应脱氧核糖核苷酸。最近的一项研究报道，结肠癌细胞系中p53结合序列中的点突变（G / T）完全破坏了p53R2蛋白的活性。方法：我们使用PCR，冷SSCP和直接DNA测序方法筛选了100例大肠腺瘤患者和100例对照受试者的p53R2基因编码区和一个含有p53结合序列的调控区。结果：尽管我们没有在所有九个外显子中都鉴定出遗传变异，但发现了四个调控区变异，其中三个是单核苷酸多态性（SNP）（nt 1 789 C / G，nt 1 928 A / G，1 933 T / C），其中一个是20 bp插入，它取代了ntTT在1831和1835之间的ATTTT。此外，在最近完成的散发性结直肠腺瘤病例对照研究（163例和210例）中，我们确定了这些p53R2变体的频率。控件）。结论：尽管这些多态性的更详细的功能表征尚待进行，但这些多态性位点可用于鉴定与错剪，其他转录因子相关的等位基因，并且更广泛地用于癌症易感性研究。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号