DIMORPHIC ALU REPEATS-APPLICATION IN IDENTITY TESTING

该项目的目标是开发一种基于杂交的基因分型检测方法，使用双态Alu重复序列作为遗传标记。这种基因分型系统的主要应用领域将是亲子鉴定和法医学。二态Alu重复序列是一种新的双等位基因遗传标记，其在血统上是相同的，稳定的，并且可以通过非常简单的基于PCR的测定来分型。这使得它们成为人类基因身份测试的理想选择。与传统的VNTR和STR等标记物相比，基于DNA微阵列的基因分型方法是一种非常方便和经济的方法。第一阶段的研究将集中在验证的Alu标志物的身份测试应用，探针设计的杂交为基础的测定和开发的基因分型测定使用多重Alu PCR产物。在第二阶段，重点将转移到增加检测中标记物的数量，并将检测适应于商业DNA微阵列平台。拟议的商业应用：目前用于DNA身份测试业务的技术依赖于诸如费力且耗时的RFLP或需要昂贵的试剂盒和仪器的多重STR分析的方法。双态Alu标记加上DNA阵列上的多重基因型分析，将为众多私人检测实验室和执法机构的DNA身份检测提供一种快速、灵敏和高成本效益的方法学替代方案。

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.