PARENTAGE AND PEDIGREE ANALYSIS BY GENETIC BIT ANALYSIS

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The objective of this project is to develop a human parentage test incorporating significant improvements in utility, reliability, and cost effectiveness over currently available parentage tests. The test will be based on enzymatic interrogation of single-nucleotide-polymorphisms (SNPs) in a microtiter plate-format by Genetic Bit Analysis, (GBA). SNPs are the most common and dispersed polymorphisms in the human genome, and it is anticipated that 40 such sites will be needed to ensure a probability of exclusion of greater than 99.99%. The goal of Phase I will be to demonstrate the cost effectiveness and feasibility of detecting SNPs in previously mapped and sequenced human genomic loci, and converting those SNPs to GBA-detectable sites. The goal of Phase II will be to develop a prototype human parentage test. This GBA test will analyze a panel of 40 SNP markers and will be pilot tested on a significant number of families from major ethic groups. Development of such a test will have direct impact on the large and growing paternity market (more than 200,000 cases per year), providing improved accuracy and utility at a much reduced cost. The strategy developed during this project will also yield an efficient and cost-effective system for conversion of known human DNA sequences to a GBA test format with broad applications in human gene mapping and genetic analysis.