Dimorphic ALU repeats- Application in identity testing

目标是开发一种自动化和快速的系统，用于人类测试使用二态Alu重复作为遗传标记。二态Alu重复序列是一种新的双等位基因遗传标记，具有遗传同源性和稳定性。在第一阶段，我们已经证明了Alu标记可以用于人类鉴定。我们已经证明，Alu标记可以复用和检测基于杂交的微阵列分析。在第二阶段，我们将鉴定50个用于身份测试的Alu标记。优化PCR多重反应，使50个标记分3个多重反应扩增。将开发用于基因分型的微阵列格式。将开发一个集成的自动化平台来执行完整的测试。最终产品将是一个“ALUtyping”系统，该系统将与一个主要合作伙伴合作进行商业化。商业产品将包括寡核苷酸微阵列，用于多重PCR扩增的试剂盒，杂交缓冲液和消耗品，以及用于自动基因分型和数据分析的软件。这种基因分型系统的主要应用将是在父权领域，人类身份和人类进化研究的其他领域。建议的商业应用：目前在DNA身份检测业务中使用的技术依赖于RFLP等方法，这是费力和耗时的，或多重STR分析，这需要昂贵的试剂盒和仪器。二态Alu标记与DNA阵列上的多重基因型分析相结合，将为众多私人检测实验室和低执法机构提供一种快速、敏感和高成本效益的DNA身份检测方法。

The goal is to develop an automated and rapid system for human testing using dimorphic Alu repeats as genetic markers. Dimorphic Alu repeats are novel bi-allelic genetic markers that are identical by descent and stable. During the Phase I, we have demonstrated that the Alu markers can be caused for human identification. We have demonstrated that the Alu markers can be multiplexed and detected by hybridization based micro array assay. In Phase II, we will identify fifty Alu markers useful for identity testing. The PCR multiplex reactions will be optimized, so that the fifty markers can be amplified in three multiplex reactions. A micro-array format will be developed for genotyping. An integrated automated platform will be evolved for performing the complete testing. The end product will be an "ALUtyping" system that will be commercialized in partnership with a major cooperation. The commercial product will comprise of oligonucleotide micro-arrays, reagent kits for multiplexed PCR amplifications, hybridization buffers and consumables, and software for automated genotyping and data analysis. The major applications of this genotyping system will be in the fields of paternity, others areas of human identity and human evolution studies. PROPOSED COMMERCIAL APPLICATIONS: Current techniques used in the DNA identity testing business rely upon methods such as RFLP, which is laborious and time consuming or multiplex STR analysis this requires expensive kits and instrumentation. The dimorphic Alu markers coupled with a multi-plexed genotype analysis on a DNA array will provide a rapid, sensitive and highly cost- effective methodological alternative for DNA identity testing for the numerous private testing laboratories and low enforcement agencies.