SBIR-STTR Award

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.

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.

Thesaurus Terms:
biomedical automation, genetic marker, genetic screening, nucleic acid amplification technique, nucleic acid hybridization, nucleic acid quantitation /detection, nucleic acid repetitive sequence, technology /technique development evolution, family genetics, genetic mapping, genetic polymorphism, microarray technology, nucleic acid probe biotechnology, human genetic material tag, polymerase chain reaction