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News
Gene study shows why humans are different

September 29, 2007
www.thetimesofindia.com

US researchers have discovered that individual differences in humans may have more to do with rearranged chunks of DNA, rather than specific gene mutations, suggested a study published on Thursday.

The findings, which showed as many as 1,300 structural variations between two women of different ethnic descent, could shed light on new ways to combat disease, said researchers at Yale University.

"The focus for identifying genetic differences has traditionally been on point mutations or SNPs - changes in single bases in individual genes," said Michael Snyder, senior author of the study published in Science Express.

"Our study shows that a considerably greater amount of variation between individuals is due to rearrangement of big chunks of DNA."

Researchers used a new method of study DNA called paired-end mapping in order to examine structural variants between one female of African descent and one of European descent. The approach involved breaking up the "genome DNA into manageable-sized pieces about 3,000 bases long," after which point scientists "tagged and rescued the paired ends of the fragments, and then analyzed their sequence with a high-throughput, rapid-sequencing method developed by 454 Life Sciences," the study said.

"Previous work, based on point mutations estimated that there is a 0.1% difference between individuals, while this work points to a level of variation between two- and five-times higher," Snyder said.

"We also found 'hot spots' - particular regions where there is a lot of variation," said first author of the study Jan Korbel, a researcher at Yale.

"While these regions may be still actively undergoing evolution, they are often regions associated with genetic disorder and disease."