...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Genetic testing and molecular biomarkers >DNA repair gene polymorphisms at XRCC1 (Arg194Trp, Arg280His, and Arg399Gln) in a healthy Tunisian population: Interethnic variation and functional prediction
【24h】

DNA repair gene polymorphisms at XRCC1 (Arg194Trp, Arg280His, and Arg399Gln) in a healthy Tunisian population: Interethnic variation and functional prediction

机译：DNA修复基因多态性在XRCC1 (Arg194TrpArg280His和Arg399Gln)在一个健康的突尼斯人口:不同种族间的变异和功能预测

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

The genetic polymorphisms in DNA repair genes might affect the repair activities of the enzymes, predisposing individuals to cancer risk. Due to these genetic variants, interethnic differences in DNA repair capacity were observed in various populations. Hence, our study aimed to determine the prevalence of three nonsynonymous single-nucleotide polymorphisms (SNPs) in an X-ray repair cross-complementation group 1 gene (XRCC1) (Arg194Trp, Arg280His, and Arg399Gln) in a healthy Tunisian population (TUN) and to compare that with HapMap (www.hapmap.org) populations. Also, we predicted their eventual functional effect based on the protein conservation analysis by Sorting Intolerant From Tolerant (SIFT; http://sift.jcvi.org/www/SIFT-dbSNP.html) software. The genotypes of 154 healthy individuals were determined by the polymerase chain reaction-restriction fragment length polymorphism. Tunisians showed a relative relatedness with Caucasians (European ancestry) for Arg194Trp and Arg399Gln that may be explained by the strategic geographic location of Tunisia in the Mediterranean, allowing exchanges with European countries. However, a characteristic pattern was observed in Arg280His polymorphism, which could be explained by the high inbreeding rate in TUN. The analysis of protein conservation showed that the three amino acid substitutions were predicted as damaged. The results presented here provide the first report on XRCC1 polymorphisms about Tunisians and may establish baseline database for our future clinical and genetic studies.
机译：DNA修复基因的遗传多态性可能会影响的维修活动酶,影响个体罹患癌症的风险。由于这些遗传变异,不同种族间的观察DNA修复能力的差异在不同的人群。确定三产生的流行单核苷酸多态性(snp)在一次x射线修复cross-complementation组1基因一个健康的人口(桶)和突尼斯比较,随着人类基因组单体型图(www.hapmap.org)人群。基于蛋白功能的影响保护分析的排序不能容忍宽容(筛选;http://sift.jcvi.org/www/SIFT-dbSNP.html)软件个人是由聚合酶链reaction-restriction片段长度多态性。亲缘与高加索人(欧洲血统)Arg194Trp和Arg399Gln可能解释道突尼斯的战略地理位置在地中海地区,允许交流欧洲国家。模式中观察到Arg280His多态性,可以解释为高近亲繁殖率在桶。显示三个氨基酸替换被预测为损坏。这里提供XRCC1的第一份报告多态性对突尼斯和可以建立为我们的未来的临床和基础数据库遗传研究。

著录项

相似文献

  • 外文文献
  • 中文文献
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