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. ? ?
| Hurley, James D; Engle, Linda J; Davis, Jesse T et al. (2004) A simple, bead-based approach for multi-SNP molecular haplotyping. Nucleic Acids Res 32:e186 |
