Justification for Purchase of the Applied Biosystems 3500 Genetic Analyzer.pdf

Justification for Purchase of the Applied Biosystems 3500 Genetic Analyzer Modern genetics depends on the ability to analyze a variety of types of genetic markers, including microsatellite markers and SNPs and to determine the sequence of genes and whether they are altered from the consensus in a population. In addition, DNA sequencing is required to identify sequence changes in both unaffected and affected individuals. Currently, positional cloning projects require the ability to analyze large numbers of samples rapidly, accurately, and efficiently. These ‘high throughput’ projects cannot be performed by hand, but require automated analysis systems. The most efficient and practical method to carry out this type of analysis at this time is by using capillary sequencing apparatus. While in the past, these analyses were carried out using an Applied Biosystems 3130 DNA Analysis System, this model of DNA sequencer is being discontinued and will not be supported by Applied Biosystems after 2020. This automated gel electrophoresis system that represented the state of the art 10 years ago are no longer being sold and soon will no longer be supported for maintenance and even parts. Thus, we must move to an updated system to carry out genotyping and DNA sequencing. In order to increase the efficiency and versatility of our assay and analysis systems the new system must be compatible with the Applied Biosystems 3130 Automated DNA Analysis Systems currently in use in our laboratory and by our collaborators in the Pakistan project, both in terms of reagents and assay systems it can utilize and the file format and types it provides for downstream analysis. We need the ability to use these systems to analyze microsatellite markers, which are useful for both complex and Mendelian diseases and traits. These are ABI specific reagents and internal analysis programs written for our existing equipment, and no outside company can provide them.

They will be used for linkage to identify genes and genetic material and genetic mutations causing vision related diseases for project EY 00272, Inherited Ocular Diseases. These include cataracts and retinitis pigmentosa, blinding diseases that cause significant suffering in the US and Pakistani populations. I have attached the ABI quote, which is for the individual items on the NEIPOTS purchase request as well as the sole source justification, which describes our compatibility and throughput requirements in more detail.

5/7/2020