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 'Lipid asymmetry' plays key role in activating immune cells
20.02.2018 | Biophysical Society

nachricht New printing technique uses cells and molecules to recreate biological structures
20.02.2018 | Queen Mary University of London

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: In best circles: First integrated circuit from self-assembled polymer

For the first time, a team of researchers at the Max-Planck Institute (MPI) for Polymer Research in Mainz, Germany, has succeeded in making an integrated circuit (IC) from just a monolayer of a semiconducting polymer via a bottom-up, self-assembly approach.

In the self-assembly process, the semiconducting polymer arranges itself into an ordered monolayer in a transistor. The transistors are binary switches used...

Im Focus: Demonstration of a single molecule piezoelectric effect

Breakthrough provides a new concept of the design of molecular motors, sensors and electricity generators at nanoscale

Researchers from the Institute of Organic Chemistry and Biochemistry of the CAS (IOCB Prague), Institute of Physics of the CAS (IP CAS) and Palacký University...

Im Focus: Hybrid optics bring color imaging using ultrathin metalenses into focus

For photographers and scientists, lenses are lifesavers. They reflect and refract light, making possible the imaging systems that drive discovery through the microscope and preserve history through cameras.

But today's glass-based lenses are bulky and resist miniaturization. Next-generation technologies, such as ultrathin cameras or tiny microscopes, require...

Im Focus: Stem cell divisions in the adult brain seen for the first time

Scientists from the University of Zurich have succeeded for the first time in tracking individual stem cells and their neuronal progeny over months within the intact adult brain. This study sheds light on how new neurons are produced throughout life.

The generation of new nerve cells was once thought to taper off at the end of embryonic development. However, recent research has shown that the adult brain...

Im Focus: Interference as a new method for cooling quantum devices

Theoretical physicists propose to use negative interference to control heat flow in quantum devices. Study published in Physical Review Letters

Quantum computer parts are sensitive and need to be cooled to very low temperatures. Their tiny size makes them particularly susceptible to a temperature...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

2nd International Conference on High Temperature Shape Memory Alloys (HTSMAs)

15.02.2018 | Event News

Aachen DC Grid Summit 2018

13.02.2018 | Event News

How Global Climate Policy Can Learn from the Energy Transition

12.02.2018 | Event News

 
Latest News

'Lipid asymmetry' plays key role in activating immune cells

20.02.2018 | Life Sciences

MRI technique differentiates benign breast lesions from malignancies

20.02.2018 | Medical Engineering

Major discovery in controlling quantum states of single atoms

20.02.2018 | Physics and Astronomy

VideoLinks
Science & Research
Overview of more VideoLinks >>>