Molecular Haplotyping of Long Genomic Distances of DNA

点击翻译按钮获取中文摘要

This SBIR project is proposed to commercialize a novel method referred as PDESA for revealing patient's individual haplotypes. Our preliminary data shown that PDESA could reveal haplotypes of sequences of 134kb in length, which is about three times longer than the longest sequence haplotyped using other molecular methods. PDESA is simple, easy to implement, and importantly, it works! Thus, this project is warranted. Phase I of this SBIR project is to further demonstrate the feasibility of PDESA and the specific aims of Phase I are: Aim 1: applying PEDSA to hapiotyping a sequence block near the IBD5 locus to establish the fact that PDESA is indeed, a robust, general molecular method for haplotyping; Aim 2: evaluating the accuracy of PDESA by haplotyping a family with a total of 16 individuals in both the ApoE4 and IBD5 loci; and Aim 3: demonstrating the feasibility of using PDESA to haplotype ultra long distances of genomic DNA (longer than 150kb). The goals in Phase II will be (1) to develop the assays that meet the requirements of clinical applications; (2) to develop rapid, easy kits for haplotyping a number of genes of functional and clinical significance, including both individual and multiplexed assays; (3) to develop assays for haplotyping of potential clinical and commercial value, identified in the scientific literature and/or HAPmap database for genes presumed to have values. By the end of this project, we shall have many well-developed assays that are ready to implement for haplotyping both short and long distances of DNA in an accurate, robust, low-cost, high-throughput manner. Thus, success of this project will not only be of commercial significance to GLC Biotechnology Inc., but also will have profound impacts on many fields, particularly on pharmacogenetics, and personalized medicine.