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"A Single Nucleotide
Polymorphism, or SNP is a single base, point, genetic change, or
variation, that can occur within a person's DNA sequence. The genetic
code is specified by the four nucleotide "letters" A (adenine), C
(cytosine), T (thymine), and G (guanine). SNP variation occurs when a
single nucleotide, such as an A, replaces one of the other three
nucleotide letters - C, G, or T" 1. Specifically, the apparent benign
genetic change represents a deviation from the "normal" or known,
common sequence for a particular gene.
SNPs that appear in the promoter region, coding
region, or at exon/intron boundaries may result in altered
transcriptional regulation, altered amino acid sequence in the gene
product, and altered mRNA editing (splicing), respectively.
Investigating the frequency and phenotypic correlates with known SNPs
harbors the potential to discover specific genes that are responsible
for predisposition for disease risk, as well as offers value in
forensics research and population genetics. Many efforts to use SNP's
for understanding genetic variability are now ongoing. High Throughput
laboratories are undergoing research to map SNP's for disease
diagnosis, pharmacogenomics , and agricultural genetics. Several
institutions have exceeded runs of 100,000,000 wells per year. Given
the increasing focus on SNP technology, there is an immediate need to
increase throughput using robotic automation and to reduce reagent
costs with nanoliter dispensing.
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