Researchers from universities in Turkey and the US have identified the genetic mutation responsible for the Uner Tan Syndrome (UTS) using genetic capture and sequencing technologies from Roche.
The combined genomic technologies enabled the team of scientists to identify the causative mutation of the disease.
Using Roche Nimblegen's Sequence Capture technology and the GS FLX System from 454 Life Sciences, the 7Mb targeted candidate region from two affected and two carrier individuals were quickly extracted from the genome and sequenced.
Trimming of the candidate mutations found in the region led to a list of four final candidates based on gene function and Mendelian disease models.
Out of these four candidates, three were excluded by further screening 300 healthy controls.
In the end, a single mutation was discovered from this study as the genetic basis for Uner Tan Syndrome in the affected family.
Combining targeted next-generation sequencing technologies with the traditional genetic-linkage analysis enabled the efficient capture and high-quality sequencing of the region, and led to the fast discovery of the disease causing mutation.
