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Homogeneous Mutation Scanning

Award Information

Agency:
Department of Health and Human Services
Branch:
N/A
Award ID:
71679
Program Year/Program:
2005 / STTR
Agency Tracking Number:
GM072419
Solicitation Year:
N/A
Solicitation Topic Code:
N/A
Solicitation Number:
N/A
Small Business Information
IDAHO TECHNOLOGY
IDAHO TECHNOLOGY 390 WAKARA WAY SALT LAKE CITY, UT 84108
View profile »
Woman-Owned: No
Minority-Owned: No
HUBZone-Owned: No
 
Phase 2
Fiscal Year: 2005
Title: Homogeneous Mutation Scanning
Agency: HHS
Contract: 4R42GM072419-02
Award Amount: $750,000.00
 

Abstract:

DESCRIPTION (provided by applicant): Our objective is to provide a homogeneous, closed-tube system for DNA mutation scanning on a high-throughput platform. For many complex genetic diseases, it is very difficult and expensive to screen for all possible mutations that may cause the disease. We propose a relatively simple solution. Certain dyes are compatible with PCR and can detect sequence alterations present in one copy of DNA by simple melting analysis after amplification. The dye is added before PCR, and optionally followed in real-time during amplification. Heterozygotes are easily identified after a 5 min. high-resolution melting curve after PCR. Specific aims for Phase I of this Fast Track proposal include: 1. Identify and/or synthesize scanning dyes that can be used with standard fluorescein optics. 2. Demonstrate that heterozyotes can be identified by high-resolution melting on a 384-well platform. 3. Achieve 90% sensitivity and specificity for single base change heterozygote detection in PCR products up to 300 bps in length. Our currently manufactured 384-well, low-resolution genotyping instrument will be modified for high-resolution scanning. A robust DNA scanning dye for use with standard fluorescein optics will be identified and/or synthesized for this instrument and potentially others. A comprehensive screen of single base mismatches in engineered plasmids will be used to establish the sensitivity and specificity of the system, and provide the criteria for Phase II funding. Advantages of high-resolution melting analysis for mutation scanning include speed (< 5 min), homogeneous design (no need for automation), closed-tube analysis (no amplicon contamination risk), and sample disposition (immediately available for sequencing if necessary).

Principal Investigator:

Carl T. Wittwer
8015814737
CARL.WITTWER@PATH.UTAH.EDU

Business Contact:

Monty Botosan
8015825138
MONTY@IDAHOTEC.COM
Small Business Information at Submission:

Idaho Technology
390 Wakara Way Salt Lake City, UT 84108

EIN/Tax ID: 820439851
DUNS: N/A
Number of Employees: N/A
Woman-Owned: No
Minority-Owned: No
HUBZone-Owned: No