...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>World Journal of Gastroenterology >Absence of MutY homologue mutation in patients with multiple sporadic adenomatous polyps in Korea.
【24h】

Absence of MutY homologue mutation in patients with multiple sporadic adenomatous polyps in Korea.

机译：韩国多发散发性腺瘤性息肉患者无MutY同源突变。

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:Recently, germ-line mutation in the base excision repair gene MYH has been identified to cause a novel autosomal recessive form of familial adenomatous polyposis (FAP). Interestingly, a striking evidence for MYH mutations within different ethnic groups has been demonstrated. In this study, we screened 30 patients with multiple adenomatous polyps for MYH mutations to assess its prevalence and ethnic specificity in Korea.METHODS:Thirty patients (21 men and 9 women; mean age 62.3 years) with multiple adenomatous polyps were examined for MYH mutations. The mean number of adenomas per patient was 10.0. Sixteen exonic regions and their intronic sequences were amplified by PCR and subjected to SSCP and DNA sequencing analyses.RESULTS:None of the patients was identified to carry any truncating or sequence alterations in MYH. Our screening for the mutational regions, which were recognized from Caucasian patients or affected Indian families, also failed to detect sequence substitutions.CONCLUSION:Mutation inMYH may be rarely involved in the pathogenesis of multiple sporadic colorectal adenomas in Korean population, although a large-scale analysis will be required to clarify the presence of specific MYH variants in a subset of patients and their role in the predisposition of multiple colorectal adenomas in Korean population.
机译：目的：最近，已确定碱基切除修复基因MYH中的种系突变可导致新型的常染色体隐性形式的家族性腺瘤性息肉病（FAP）。有趣的是，已经证明了不同种族内MYH突变的惊人证据。在这项研究中，我们筛选了30例多发性腺瘤息肉患者的MYH突变，以评估其患病率和种族特异性。方法：对30例多发性腺瘤性息肉患者（21名男性和9名女性;平均年龄62.3岁）进行了MYH突变检查。 。每位患者的平均腺瘤数量为10.0。通过PCR扩增了16个外显子区域及其内含子序列，并进行了SSCP和DNA测序分析。结果：未发现任何患者的MYH发生截短或序列改变。我们从白人患者或受影响的印度家庭中识别出的突变区域的筛查也未能检测到序列取代。结论：尽管在韩国人群中大规模散发性结直肠腺瘤的发病机制，MYH的突变可能很少参与其发病机制将需要进行分析，以阐明部分患者中特定MYH变体的存在及其在韩国人群中多种结直肠腺瘤易感性中的作用。

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