SBIR Phase I: Method for Genetic Detection Using Interspersed Genetic Elements

这个小企业创新研究（SBIR）第一阶段项目建议开发下一代法医人类DNA分型系统。自从25年前首次使用DNA分析以来，它已经获得了广泛的普及。它的应用已经从犯罪和亲子问题扩展到大规模灾难和战场法医。此外，快速分析退化和最小样品的愿望也呈指数增长。虽然短串联重复序列（STR）的DNA分析被认为是常规的，但科学家们仍在继续探索识别更小DNA片段的方法。线粒体测序是目前最后的检测手段，但缺乏核STR分型的鉴别能力。随着DNA分析的增加，对更快、更可靠、成本更低的测试的需求也在增加。本项目提出使用微流控平台与重新设计的引物为移动分散遗传元件的Alu家族。产生100-200 bp范围扩增子的Alu引物组将进行Alu插入多态性的分型。由于人类基因组中有大量的Alus，以及它们已知的祖先状态，这些遗传元素可以成为对降解DNA样本进行分型和推断地理起源的有价值的工具。该项目的更广泛的影响和商业潜力是为人类鉴定提供一个完整、稳健的下一代DNA分型系统。基于铝的快速DNA分型系统的成功开发将为人类身份测试市场提供额外的和潜在的变革性工具，以识别含有降解DNA的生物样品，并为标本的地理祖先提供线索。补充和下一代DNA分型系统将产生更多的遗传信息，这些信息可以帮助社会为暴力犯罪的受害者寻求真相和正义。大规模灾难、战场取证以及犯罪现场的常规DNA分析和亲子鉴定都将受益于下一代快速DNA鉴定系统。对于法医应用，微流控平台结合基于铝的DNA分型系统将满足该行业的商业需求，并且至少可以为现有的测试方法提供额外的信息。根据目前的人类DNA鉴定测试市场，一个补充的基于alu的DNA分型系统的商业潜力超过1亿美元，因此对人类DNA分析领域产生了重大的商业影响和积极的贡献。

This Small Business Innovation Research (SBIR) Phase I project proposes to develop a next generation forensic human DNA typing system. DNA profiling has gained broad popularity since its first use 25 years ago. Its application has expanded from criminal and parentage issues to mass disasters and battlefield forensics. In addition, the desire to rapidly analyze degraded and minimal samples has also increased exponentially. While DNA analysis of Short Tandem Repeats (STR) is considered routine, scientists continue to explore ways to identify smaller segments of DNA for identification purposes. Mitochondrial sequencing is presently the test of last resort but lacks the discrimination power of nuclear STR typing. As DNA profiling has increased, so has the need for quicker, more robust and less costly tests. This project proposes the use of a microfluidic platform with redesigned primers for the Alu family of Mobile Interspersed Genetic Elements. Alu primer sets producing amplicons in the 100-200 bp range will be typed for Alu insertion polymorphism. Due to the large number of Alus available in the human genome and their known ancestral state, these genetic elements can be a valuable tool for typing degraded DNA samples and in their ability to infer geographic origin. The broader impact and commercial potential of this project is to provide a complete, robust, next generation DNA typing system for human identification. Successful development of a rapid Alu-based DNA typing system would provide the human identity testing market with additional and potentially transformational tools to identify biological samples containing degraded DNA as well as provide clues to the geographic ancestry of a specimen. Supplemental and next generation DNA typing systems will result in the production of more genetic information that can aid society in its search for the truth and justice for victims of violent crimes. Mass disasters, battlefield forensics, as well as routine DNA analysis for crime scene and parentage testing will benefit from a next generation rapid DNA identification system. For forensic applications, a microfluidic platform in conjunction with an Alu-based DNA typing system will address the commercial needs of this industry and at minimum could provide additional information to existing testing methods. Based upon the current human DNA identification testing market the commercial potential of a supplemental Alu-based DNA typing system is in excess of 100 million dollars, thus making a significant commercial impact and positive contribution to the field of human DNA profiling.