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Abstract
Grant Number: 2R44HG002247-02 PI Name: LANDERS, JOHN E. PI Email: jlanders@polygenyx.com PI Title: Project Title: An Innovative, High-Throughput Method of SNP Haplotyping Abstract: DESCRIPTION (provided by applicant): Objectives are refining a novel, high-throughput method for haplotype analysis of single nucleotide polymorphisms (SNPs) and developing assays for specific haplotypes of significant scientific/clinical and commercial relevance. Presently, no simple, reliable, accurate methods exist for high-throughput SNP haplotyping. Applications are; 1) screening large numbers of samples for haplotypes associated with susceptibility to a particular disease; 2) diagnostic tests for haplotypes associated with disease susceptibility, pharmacogenetic and immunologic profiling; 3) saturation genotyping using haplotypes to narrow candidate genomic regions defined by linkage studies based on individual SNPs; and 4) linkage disequilibrium and association studies of genes located in candidate genomic regions or candidate genes identified by other methods. Phase I activities converted a plate-based 2-SNP haplotyping assay to a multi-SNP bead-based assay yielding dramatic throughput and reproducibility improvements while decreasing cost, labor and time, and demonstrated utility in haplotyping the E-selectin gene. Phase II aims are: 1) To reduce assay development effort and assay cost; 2) To develop rapid, easy kits for haplotyping several cytokines of functional and clinical significance, including both individual and multiplexed assays 3) To develop assays for haplotypes of potential clinical/scientific/commercial value, identified in the scientific literature and/or HAPMap database for genes presumed to have value.
Thesaurus Terms:
genetic polymorphism, genotype, haploidy, high throughput technology, method development, nucleic acid hybridization, single nucleotide polymorphism
genetic marker, linkage disequilibrium, oligonucleotide
Institution: POLYGENYX, INC. 25 WINTHROP ST WORCESTER, MA 01604 Fiscal Year: 2003 Department: Project Start: 01-JUL-2000 Project End: 30-APR-2005 ICD: NATIONAL HUMAN GENOME RESEARCH INSTITUTE IRG: ZRG1