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 Seeing on the Quick: New Insights into Active Vision in the Brain
15.08.2018 | Eberhard Karls Universität Tübingen

nachricht New Approach to Treating Chronic Itch
15.08.2018 | Universität Zürich

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Unraveling the nature of 'whistlers' from space in the lab

A new study sheds light on how ultralow frequency radio waves and plasmas interact

Scientists at the University of California, Los Angeles present new research on a curious cosmic phenomenon known as "whistlers" -- very low frequency packets...

Im Focus: New interactive machine learning tool makes car designs more aerodynamic

Scientists develop first tool to use machine learning methods to compute flow around interactively designable 3D objects. Tool will be presented at this year’s prestigious SIGGRAPH conference.

When engineers or designers want to test the aerodynamic properties of the newly designed shape of a car, airplane, or other object, they would normally model...

Im Focus: Robots as 'pump attendants': TU Graz develops robot-controlled rapid charging system for e-vehicles

Researchers from TU Graz and their industry partners have unveiled a world first: the prototype of a robot-controlled, high-speed combined charging system (CCS) for electric vehicles that enables series charging of cars in various parking positions.

Global demand for electric vehicles is forecast to rise sharply: by 2025, the number of new vehicle registrations is expected to reach 25 million per year....

Im Focus: The “TRiC” to folding actin

Proteins must be folded correctly to fulfill their molecular functions in cells. Molecular assistants called chaperones help proteins exploit their inbuilt folding potential and reach the correct three-dimensional structure. Researchers at the Max Planck Institute of Biochemistry (MPIB) have demonstrated that actin, the most abundant protein in higher developed cells, does not have the inbuilt potential to fold and instead requires special assistance to fold into its active state. The chaperone TRiC uses a previously undescribed mechanism to perform actin folding. The study was recently published in the journal Cell.

Actin is the most abundant protein in highly developed cells and has diverse functions in processes like cell stabilization, cell division and muscle...

Im Focus: Lining up surprising behaviors of superconductor with one of the world's strongest magnets

Scientists have discovered that the electrical resistance of a copper-oxide compound depends on the magnetic field in a very unusual way -- a finding that could help direct the search for materials that can perfectly conduct electricity at room temperatur

What happens when really powerful magnets--capable of producing magnetic fields nearly two million times stronger than Earth's--are applied to materials that...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Within reach of the Universe

08.08.2018 | Event News

A journey through the history of microscopy – new exhibition opens at the MDC

27.07.2018 | Event News

2018 Work Research Conference

25.07.2018 | Event News

 
Latest News

Unraveling the nature of 'whistlers' from space in the lab

15.08.2018 | Physics and Astronomy

Diving robots find Antarctic winter seas exhale surprising amounts of carbon dioxide

15.08.2018 | Earth Sciences

Early opaque universe linked to galaxy scarcity

15.08.2018 | Physics and Astronomy

VideoLinks
Science & Research
Overview of more VideoLinks >>>