...
  • 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 >High-Resolution Melting Analysis Is a More Effective Approach for Screening TSC Genes Mutations
【24h】

High-Resolution Melting Analysis Is a More Effective Approach for Screening TSC Genes Mutations

机译：高分辨率分析更融化TSC基因筛查的有效途径突变

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

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with a prevalence of 1 in 95,136 in Taiwan. TSC is characterized by hamartomatous lesions in multiple organ systems. Genetic defects in TSC1 and TSC2 genes are the main causes of TSC. A molecular screening protocol using denaturing high-performance liquid chromatography (dHPLC) followed by DNA sequencing is currently performed to locate the genetic lesions in many clinical laboratories. The current screening approach is time consuming and inefficient. In this study, we analyzed all coding exons of TSC1 and TSC2 genes of 30 TSC patients and 47 unaffected family members using the traditional dHPLC protocol and our recently developed diagnostic platform based on high-resolution melting analysis (HRM) followed by bidirectional DNA sequencing. Data indicated that 20 mutations, including 5 mutations in TSC1 (2 sporadic, 1 familial mutation, and 2 of uncertain origin) and 15 mutations in TSC2 (14 sporadic and 1 familial mutation), 8 single-nucleotide polymorphisms (SNPs, including 3 SNPs found in irrelevant individuals without TSC phenotyps studied in the control group), and 3 variants with undetermined significance were identified, including 4 novel mutations. The sensitivities of HRM and dHPLC for TSC mutation screening were estimated as 95% and 75%, respectively. The specificities of HRM and dHPLC for TSC mutation screening were evaluated as 91% and 98%. In addition, results suggested our novel HRM screening protocol to be more economical. In conclusion, we successfully developed a superior approach for TSC genes mutation screening for clinical application.
机译：结节性硬化症(TSC)是一种常染色体主要障碍患病率的195136年的台湾。hamartomatous在多个器官系统损伤。在TSC1和TSC2基因遗传缺陷TSC的主要原因。协议使用变性高效液相色谱法(dHPLC) DNA测序紧随其后目前正在进行定位的基因吗在许多临床实验室病变。当前的筛查方法是费时和效率低下。编码外显子TSC1和TSC2 30 TSC的基因患者和47个家庭成员使用的影响传统dHPLC协议和我们最近开发基于诊断平台高分辨率融化分析(人力资源管理)通过双向DNA测序。20突变,包括5 TSC1突变(2零星,1家族突变,2不确定来源)和TSC2 15突变(14零星的和1家族突变),8单核苷酸多态性(SNPs,包括3个snp在无关紧要的人,没有找到TSC phenotyps研究对照组),3变种与不确定的意义识别,包括4小说突变。人力资源管理的敏感和dHPLC TSC突变筛选被估计为95%和75%,分别。TSC突变筛查评估为91%和98%。人力资源管理检查协议更经济。结论,我们成功地开发了一种优越TSC基因突变筛查的方法临床应用。

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