Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Researchers discover novel genomic disorders

15.08.2006
NimbleGen's high-resolution array CGH pinpoints location of genomic aberrations causing mental retardation

Researchers at the University of Washington and The Howard Hughes Medical Institute have discovered several new genetic causes of mental retardation, according to a study published online August 13 in Nature Genetics. One form of retardation, caused by a large deletion that spans six genes on chromosome 17, has characteristic facial, behavioral, and other physical features that can aid clinicians in identifying similar syndromes.

Working with colleagues in the UK and US, the researchers screened 290 children with mental retardation and identified several abnormal genetic events. The researchers were able to pinpoint the region of the specific deletion using NimbleGen's high-resolution CGH microarrays. "The ability of NimbleGen to rapidly generate custom-designed, high-density oligo arrays targeted to the specific chromosomal regions we were interested in provided us the key data in our study," stated Dr. Andrew Sharp, Senior Fellow and Rosetta Fellow of the University of Washington and first author on the paper. "Having these tools in hand gave us, in a single experiment, what would otherwise have taken months of work using conventional methods, and allowed unprecedented insight into the underlying biology and mechanism of genomic disease."

The deletion on chromosome 17 was seen in multiple children. Based on current data, this deletion potentially accounts for ~1% of cases of mental retardation, making it one of the most common genetic causes of mental retardation. The deletion, encompassing several genes, is associated with a region of DNA that is commonly reversed (or inverted) in one in five people of European descent. Intriguingly, this deletion seems to occur preferentially among children of individuals who carry the inversion.

The research was based on the hypothesis that the genome contains hotspots that are prone to instability and thus play a key role in the occurrence of genomic disorders. These hotspots are flanked on each side by large, repetitive regions of DNA, termed "segmental duplications". It is because of the repetitive nature of these regions that, during replication, the genome can become "confused" and duplicate, reverse, or delete itself within these regions.

Justin Reedy | EurekAlert!
Further information:
http://www.washington.edu
http://www.NimbleGen.com

More articles from Life Sciences:

nachricht Molecular Force Sensors
20.09.2017 | Max-Planck-Institut für Biochemie

nachricht Foster tadpoles trigger parental instinct in poison frogs
20.09.2017 | Veterinärmedizinische Universität Wien

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Tiny lasers from a gallery of whispers

New technique promises tunable laser devices

Whispering gallery mode (WGM) resonators are used to make tiny micro-lasers, sensors, switches, routers and other devices. These tiny structures rely on a...

Im Focus: Ultrafast snapshots of relaxing electrons in solids

Using ultrafast flashes of laser and x-ray radiation, scientists at the Max Planck Institute of Quantum Optics (Garching, Germany) took snapshots of the briefest electron motion inside a solid material to date. The electron motion lasted only 750 billionths of the billionth of a second before it fainted, setting a new record of human capability to capture ultrafast processes inside solids!

When x-rays shine onto solid materials or large molecules, an electron is pushed away from its original place near the nucleus of the atom, leaving a hole...

Im Focus: Quantum Sensors Decipher Magnetic Ordering in a New Semiconducting Material

For the first time, physicists have successfully imaged spiral magnetic ordering in a multiferroic material. These materials are considered highly promising candidates for future data storage media. The researchers were able to prove their findings using unique quantum sensors that were developed at Basel University and that can analyze electromagnetic fields on the nanometer scale. The results – obtained by scientists from the University of Basel’s Department of Physics, the Swiss Nanoscience Institute, the University of Montpellier and several laboratories from University Paris-Saclay – were recently published in the journal Nature.

Multiferroics are materials that simultaneously react to electric and magnetic fields. These two properties are rarely found together, and their combined...

Im Focus: Fast, convenient & standardized: New lab innovation for automated tissue engineering & drug

MBM ScienceBridge GmbH successfully negotiated a license agreement between University Medical Center Göttingen (UMG) and the biotech company Tissue Systems Holding GmbH about commercial use of a multi-well tissue plate for automated and reliable tissue engineering & drug testing.

MBM ScienceBridge GmbH successfully negotiated a license agreement between University Medical Center Göttingen (UMG) and the biotech company Tissue Systems...

Im Focus: Silencing bacteria

HZI researchers pave the way for new agents that render hospital pathogens mute

Pathogenic bacteria are becoming resistant to common antibiotics to an ever increasing degree. One of the most difficult germs is Pseudomonas aeruginosa, a...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

“Lasers in Composites Symposium” in Aachen – from Science to Application

19.09.2017 | Event News

I-ESA 2018 – Call for Papers

12.09.2017 | Event News

EMBO at Basel Life, a new conference on current and emerging life science research

06.09.2017 | Event News

 
Latest News

Molecular Force Sensors

20.09.2017 | Life Sciences

Producing electricity during flight

20.09.2017 | Power and Electrical Engineering

Tiny lasers from a gallery of whispers

20.09.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>