Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Scientists develop a new diagnostic approach for carriers of recessive genetic disorders

04.07.2006
Disruption of global gene expression patterns in carriers may be a significant source of human variation

Scientists Vivian Cheung and Warren Ewens from the University of Pennsylvania have developed a new approach for the diagnosis of medical disorders that are inherited in a recessive manner. Their method is based on identifying subtle but distinct differences in genome-wide expression profiles using microarray technology. An article describing the approach appears online this week in the journal Genome Research.

As a model for their work, Cheung and Ewens used a rare recessive disease known as Nijmegen breakage syndrome (NBS). Only one gene – called NBS1 – is known to be causative for NBS, although there are multiple disease-initiating variants of this gene in different human populations. Individuals who possess deleterious mutations in both copies of NBS1 exhibit reduced head sizes, slowed growth rates, immunodeficiency, and a predisposition to cancer. Heterozygous carriers – who possess only one copy of the causative gene variant – appear normal, although some reports have suggested that heterozygotes may have an increased risk of cancer.

Using microarray technology, which simultaneously ascertains the expression patterns of thousands of genes, Cheung and Ewens discovered that heterozygous carriers of NBS exhibited distinct gene expression patterns when compared to controls. Of 3,928 genes that were expressed in the NBS carriers and controls, 520 consistently exhibited differences between the two groups.

Cheung and Ewens identified a set of 16 genes whose expression patterns could reliably discriminate between carriers and non-carriers of NBS. The genes could also distinguish carriers of NBS from carriers of a closely related syndrome known as ataxia telangiectasia. Therefore, these 16 predictive genes can be used to develop clinical tests to identify carriers of NBS.

Similar approaches can be extended for developing diagnostic tests for carriers of other recessive genetic disorders. Even though most recessive diseases are rare, many individuals are carriers for recessive genetic disorders: on average, each person is a carrier for three or four deleterious, disease-causing mutations. An approach to effectively identify carriers of these diseases would be welcomed by the medical community, especially in cases where the disease-causing mutation is unknown or uncharacterized at the DNA level.

Based on the results of the study, Cheung and Ewens also suggest that recessive mutations can significantly contribute to human variation. "If each of us is a carrier for three or four harmful recessive mutations, and if the expression levels of several hundred genes are altered for each of these mutations, then heterozygosity for recessive mutations plays a significant role in human variation and in the overall genetic architecture of complex human traits and diseases," explains Cheung.

Maria Smit | EurekAlert!
Further information:
http://www.genome.org)
http://www.cshl.edu

More articles from Life Sciences:

nachricht Small but ver­sat­ile; key play­ers in the mar­ine ni­tro­gen cycle can util­ize cy­anate and urea
10.12.2018 | Max-Planck-Institut für Marine Mikrobiologie

nachricht Carnegie Mellon researchers probe hydrogen bonds using new technique
10.12.2018 | Carnegie Mellon University

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Researchers develop method to transfer entire 2D circuits to any smooth surface

What if a sensor sensing a thing could be part of the thing itself? Rice University engineers believe they have a two-dimensional solution to do just that.

Rice engineers led by materials scientists Pulickel Ajayan and Jun Lou have developed a method to make atom-flat sensors that seamlessly integrate with devices...

Im Focus: Three components on one chip

Scientists at the University of Stuttgart and the Karlsruhe Institute of Technology (KIT) succeed in important further development on the way to quantum Computers.

Quantum computers one day should be able to solve certain computing problems much faster than a classical computer. One of the most promising approaches is...

Im Focus: Substitute for rare earth metal oxides

New Project SNAPSTER: Novel luminescent materials by encapsulating phosphorescent metal clusters with organic liquid crystals

Nowadays energy conversion in lighting and optoelectronic devices requires the use of rare earth oxides.

Im Focus: A bit of a stretch... material that thickens as it's pulled

Scientists have discovered the first synthetic material that becomes thicker - at the molecular level - as it is stretched.

Researchers led by Dr Devesh Mistry from the University of Leeds discovered a new non-porous material that has unique and inherent "auxetic" stretching...

Im Focus: The force of the vacuum

Scientists from the Theory Department of the Max Planck Institute for the Structure and Dynamics of Matter (MPSD) at the Center for Free-Electron Laser Science (CFEL) in Hamburg have shown through theoretical calculations and computer simulations that the force between electrons and lattice distortions in an atomically thin two-dimensional superconductor can be controlled with virtual photons. This could aid the development of new superconductors for energy-saving devices and many other technical applications.

The vacuum is not empty. It may sound like magic to laypeople but it has occupied physicists since the birth of quantum mechanics.

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

New Plastics Economy Investor Forum - Meeting Point for Innovations

10.12.2018 | Event News

EGU 2019 meeting: Media registration now open

06.12.2018 | Event News

Expert Panel on the Future of HPC in Engineering

03.12.2018 | Event News

 
Latest News

Small but ver­sat­ile; key play­ers in the mar­ine ni­tro­gen cycle can util­ize cy­anate and urea

10.12.2018 | Life Sciences

New method gives microscope a boost in resolution

10.12.2018 | Physics and Astronomy

Carnegie Mellon researchers probe hydrogen bonds using new technique

10.12.2018 | Life Sciences

VideoLinks
Science & Research
Overview of more VideoLinks >>>