The Use of Genetic Bit Analysis (GBAÔ) in Human Identity Testing
Robert C. Giles, Ph.D.1,
John M. Rader1, Matthew W. DuPont1, Tina Mclntosh2, John
V. Planz1, Marl: Pohl2, and Michael T. Boyce-Jacino2.
1GeneScreen, Inc., 2600 Stemmons Fwy., Suite 133, Dallas, Texas 75207;
2Molecular Tool, Inc., Alpha Center, Hopkins Bayview Research Campus, 5210
Eastern Avenue, Baltimore, Maryland 21224.
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Single nucleotide polymorphisms (SNPs) are the most common genetic variations in the human genome occurring about once every 300 nucleotides. Historically, these polymorphisms have been the target of analysis for a variety of purposes including disease diagnosis and gene mapping. Due to their high frequency and low mutation rates, SNPs are ideally suited markers for human identification. Using a novel DNA typing system known as GBA and a marker panel for more than forty human SNPs, we have developed a human parentage test which is accurate, robust, rapid and inexpensive.
The GBAÔ paternity test involves 96-well plate based PCR amplification, hybridization capture of PCR generated template onto sequence specific oligonucleotide coated 96-well plates, and genotyping of the captured template by primer extension sequencing (GBAÔ) using labeled chain terminators. Detection of the labeled base is performed using the standard ELlSA-based technology.
Validation studies on, more than 600 human subjects will be presented to demonstrate the advantages of GBAÔ as a "stand alone" human parentage test. The format of testing, the standardization of the biochemistry involved, along with data on linkage disequilibrium, power of exclusion, and parallel testing using standard paternity methodologies will also be presented. In addition, the potential use of a human marker panel and GBAÔ as a tool in criminal case work and data banking for convicted felons is considered.
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