...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>The Laryngoscope: A Medical Journal for Clinical and Research Contributions in Otolaryngology, Head and Neck Medicine and Surgery, Facial Plastic and Reconstructive Surgery .. >Application of SNaPshot multiplex assays for simultaneous multigene mutation screening in patients with idiopathic sensorineural hearing impairment.
【24h】

Application of SNaPshot multiplex assays for simultaneous multigene mutation screening in patients with idiopathic sensorineural hearing impairment.

机译：SNaPshot多重检测在特发性感音神经性听力障碍患者同时多基因突变筛查中的应用。

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

OBJECTIVES/HYPOTHESIS: To develop a cost-effective and robust genetic diagnostic tool for patients with idiopathic nonsyndromic sensorineural hearing impairment. STUDY DESIGN: Development of a diagnostic tool and validation in a prospective cohort. METHODS: Twenty common sequence variants in GJB2, SLC26A4, and the mitochondrial 12S rRNA gene were selected based on our previous epidemiological study. These variants were analyzed using the SNaPshot technique. The efficacies of the SNaPshot multiplex assays were determined by using a prospective cohort composed of 214 unrelated Taiwanese patients with idiopathic sensorineural hearing impairment. The results of the assays were compared to the results obtained by direct sequencing. RESULTS: We developed a diagnostic technique consisting of two consecutive panels of SNaPshot multiplex assays, with each panel screening 10 common sequence variants. Theoretically, this design can detect more than 98% of the known deafness-associated sequence variants in Taiwanese individuals. A total of 126 (58.9%) patients were diagnosed as having at least one sequence variant using the SNaPshot multiplex assays. In total, the SNaPshot assays yielded an accuracy of more than 99%. CONCLUSIONS: The strengths of SNaPshot multiplex assays include high accuracy, high sensitivity, high flexibility (the examination panel can be easily expanded for additional mutations), low cost (less than US Dollars 10 per patient), and easy implementation for any institute with a DNA sequencer. Although only 20 to 30 mutations can be examined in two to three runs of the SNaPshot assay, this technology may be suitable for first-pass screening of deafness-associated mutations in populations with a relatively homogeneous ethnic background.
机译：目的/假设：为患有特发性非综合征性感音神经性听力障碍的患者开发一种经济有效的健壮的遗传诊断工具。研究设计：开发诊断工具并在预期队列中进行验证。方法：根据我们先前的流行病学研究，选择了GJB2，SLC26A4和线粒体12S rRNA基因的20个常见序列变体。使用SNaPshot技术分析了这些变体。 SNaPshot多重分析的功效是通过使用由214名台湾特发性感音神经性听力障碍无关患者组成的前瞻性队列确定的。将测定的结果与通过直接测序获得的结果进行比较。结果：我们开发了一种诊断技术，该技术由两个连续的SNaPshot多重分析组组成，每个组都筛选10个常见序列变体。从理论上讲，这种设计可以检测台湾个体中超过98％的已知耳聋相关序列变异。使用SNaPshot多重测定法，总共诊断出126名（58.9％）患者具有至少一个序列变异。总体而言，SNaPshot测定的准确度超过99％。结论：SNaPshot多重检测的优势包括高精度，高灵敏度，高灵活性（可以轻松扩展检查面板以进行其他突变），成本低（每位患者少于10美元），并且对于任何具有SNaPshot技术的机构都易于实施DNA测序仪。尽管在SNaPshot分析的2至3次运行中只能检查20至30个突变，但该技术可能适合于通过筛查具有相对同质种族背景的人群中与耳聋相关的突变。

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