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TECHNOLOGY › FGF

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The Tiny Functional Regions of the Human Genome


The human genome consists of tiny functional and vast non-functional regions of approximately 35,000 genes.

  • The functional portion of the genome consists of regulatory regions and protein-coding regions called exons
    (colored vertical lines)
  • The genome has intervening non-coding and non-functional regions within genes as well as between genes (the entire black horizontal line)

The functional regions constitute only 1% of the genome; the remaining 99% is essentially junk, hence the term “junk DNA”. Mutations that cause diseases occur only within the functional regions. A technique that can specifically compare only the 1% functional regions between normal and diseased genomes has been lacking. Genome Technologies LLC has developed a novel technique that can achieve this selective examination of only the functional regions of the genome.

Functional Genomic Fingerprinting (FGF): A Powerful Alternative

FGF technology is a powerful alternative to current techniques. FGF multiplex amplifies the same defined subset of exons from diseased and normal genomes so that the exons can be compared in order to identify any mutational differences between them. FGF uses just a small number of operations to compare the majority of the exons in the human genome. By analyzing only the small number of mutated exons, the defective genes and the particular mutations can be readily identified.

Laboratory Experiment

FGF is made possible by our unique fixed-random (FR) primers. FR primers specifically amplify only the exons in the genome, avoiding the remaining 99% of the genome that is non-functional. This example shows that incorporating more randomized segments in the primer set amplifies more exons from the human genome (Lane 1 through Lane 5). In FGF, the same subset of exons from the diseased and normal genomes are compared and the differences in length can be used to identify the defective exons and genes from the diseased genome.

   
     
 
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