DIMORPHIC ALU REPEATS-APPLICATION IN IDENTITY TESTING

拟建项目的目标是开发一种基于杂交的基因分型分析，使用二态Alu重复序列作为遗传标记。这种基因分型系统的主要应用将在亲子鉴定和法医学领域。二态Alu重复序列是一种新型的双等位基因遗传标记，它们在遗传上是相同的，稳定的，可以通过非常简单的基于pcr的分析进行分型。这使它们成为人类基因身份测试的理想选择。与使用传统标记（如VNTRs和STRs）的分析方法相比，基于alu的DNA微阵列基因分型分析将是一种非常方便和经济的方法。第一阶段的研究将侧重于验证用于身份测试应用的Alu标记，为基于杂交的分析设计探针，以及使用多重Alu PCR产品开发基因分型分析。在第二阶段，重点将转移到增加检测中的标记数量，并使检测适应商业DNA微阵列平台。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，这是费力且耗时的，或者需要昂贵的试剂盒和仪器的多重STR分析。二态Alu标记与DNA阵列上的多重基因型分析相结合，将为众多私人测试实验室和执法机构提供一种快速、敏感和高成本效益的DNA身份测试方法。

The goal of the proposed project is to develop a hybridization-based genotyping assay using dimorphic Alu repeats as genetic markers. The major applications of this genotyping system will be in the fields of paternity testing and forensics. Dimorphic Alu repeats are novel bi-allelic genetic markers that are identical by descent, stable and can be typed by a very simple PCR-based assay. This makes them ideal for human genetic identity testing. Compared to analysis methods using conventional markers such as VNTRs and STRs, the Alu-based genotyping assay on a DNA micro-array format will be a very expedient and cost-effective method. Phase l research will focus on validation of the Alu markers for identity testing applications, probe design for the hybridization-based assay and developing the genotyping assay using multiplexed Alu PCR products. During phase II, emphasis will be shifted to increasing the number of markers in the assay and adapting the assay onto a commercial DNA micro-array platform. 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 which requires expensive kits and instrumentation. The dimorphic Alu markers coupled with a multiplexed 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 law enforcement agencies.