DNA molecules are generally examined by a unique genome mapping system. This technology could just be a thing of the past. An advanced Optical Mapping System developed by the University of Wisconsin-Madison claims to provide a complete genome analysis capable of thoroughly scrutinizing millions of individual molecules at a time.
Genetic abnormalities are often termed as ‘snips’ because they share very minute dissimilarities. DNA may include small pieces and large swaths displaying differences in length, location or may appear in a reverse order too. The investigation seemingly revealed that these variations occurred 4,205 times in a comparison of DNA from a mere four individuals.
David C. Schwartz, professor of chemistry and genetics at UW-Madison revealed, “We probably have the most comprehensive view of the human genome ever. And the variation we’re seeing in the human genome is something we’ve known was there and important for many years, but we haven’t been able to fully research it.”
When genomes are examined by employing the common system, the authors revealed that they cut long DNA molecules into tiny thousand base pairs long. They are then multiplied all together so that a chemical profile is developed for each piece. Therefore, the DNA cannot be characterized on a broader spectrum. But the new genome mapping system by Schwartz challenges the previous model, as it assures analyzing of large DNA molecules comprising almost millions of base pairs at a single time.
While employing this system the scientists have to probably lay sub-millimeter sections of single DNA molecules on treated glass surfaces. These molecules which appear identical to threads are 4 to 5 inches long in humans. Then enzymes are utilized to clip the long DNA strands into sections following which they are scanned by automated microscopes.
Brian Teague, a doctoral student in genetics at the University of Wisconsin-Madison explained, “Short pieces could really come from so many different locations. An enormous part of the genome is composed of repeating DNA, and important differences are often associated with areas that have a lot of repeated sections.”
It has to be understood that the pattern of these cuts indicate a unique barcode that supposedly enable investigators to classify the DNA molecule and describe the genetic changes it conceals. Once the scanning procedure is complete the results may then be sent to databases where it is stored for future reference. They are determined to be accumulated by a software which bar-codes the molecules together along with others. This may not only help to reorganize the entire strand of DNA, but also allows describing the various genetic changes appropriately.
Schwartz assured, “Our new technology quickly analyzes huge DNA molecules one at a time, which eliminates the copy machine step, reduces the number of DNA jig-saw pieces and increases the unique qualities of each piece. These advantages allow us to discover novel genetic patterns that are otherwise invisible.”
He further suggests that this novel genome analysis system if commercialized could hold the potential for genome analysis in just about an hour. Besides, it could cost a mere $1000 satiating the needs of high speed and low cost to fuel the personal genomics terrain.
The research was published in the May 31 issue of the Proceedings of the National Academy of Sciences.