Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Technology Targets Genetic Disorders Linked to X Chromosome

19.10.2011
Geneticists at Emory University School of Medicine have demonstrated a method that enables the routine amplification of all the genes on the X chromosome. The technology allows the rapid and highly accurate sequencing and identification of novel genetic variants affecting X chromosome genes.

The method, developed in cooperation with RainDance Technologies, is described in the Oct. 2011 issue of Genomics. Senior author Michael Zwick, PhD, assistant professor of human genetics at Emory University School of Medicine, is using the method to identify genetic variants that contribute to autism spectrum disorders.

Because the X chromosome is a hotspot for genes that are suspected of contributing to autism and intellectual disability, the Emory team’s finding could speed new discoveries and eventually make routine clinical diagnosis of autism and intellectual disability easier.

“This technology has the potential to be a valuable tool for genetic researchers across a wide variety of applications,” Zwick says. “Our data shows that it can support the routine sequencing of the exons of the human X chromosome in a uniform, accurate and comprehensive way.”

The team’s sequencing method does not read all the letters of the genetic code in the X chromosome from beginning to end. Instead, it targets more than 800 “exons”: all the genes that get read out and made into RNA.

A direct comparison with another method of target selection called oligonucleotide capture showed that the team’s technique needed between three and seven times fewer sequence reads to achieve high levels of accuracy and completeness, potentially meaning lower costs.

The Emory team’s experiments showed that their technique could read 97 percent of targeted sequences at high depth with an accuracy of 99.5 percent. The team used data from the HapMap Project, a partnership coordinated by the Human Genome Research Institute, as a reference standard for genetic sequence variation.Sex is determined by having two X chromosomes (female) or an X and a Y chromosome (male). Because males have only a single X chromosome, a mutation in a gene on the X chromosome is more likely to affect a male than a female because males lack another copy of the same gene to compensate. This pattern of inheritance can contribute to disorders that disproportionately affect males, such as autism spectrum disorder or intellectual disability.

Modern DNA sequencing techniques use the polymerase chain reaction (PCR) to isolate and “amplify” the target DNA scientists want to read. RainDance Technologies has developed a single molecule microdroplet-based technology that enables scientists to target up to 20,000 genomic loci in a single sample, saving time, space and cost while increasing reliability and ease of use. The reactions take place in millions of self-contained droplets, allowing each to amplify a different piece of DNA within an emulsion.

Reference:

K. Mondal, A.C. Shetty, V. Patel, D.J. Cutler and M.E. Zwick. Targeted sequencing of the human X chromosome exome. Genomics Vol. 98, Issue 4, pp. 260-265 (Oct. 2011).

Writer: Quinn Eastman

The Robert W. Woodruff Health Sciences Center of Emory University is an academic health science and service center focused on missions of teaching, research, health care and public service.

Learn more about Emory’s health sciences:
Blog: http://emoryhealthblog.com
Twitter: @emoryhealthsci
Web: http://emoryhealthsciences.org

Holly Korschun | EurekAlert!
Further information:
http://www.emory.edu

More articles from Life Sciences:

nachricht New image of a cancer-related enzyme in action helps explain gene regulation
05.06.2020 | Penn State

nachricht Protecting the Neuronal Architecture
05.06.2020 | Universität Heidelberg

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Restoring vision by gene therapy

Latest scientific findings give hope for people with incurable retinal degeneration

Humans rely dominantly on their eyesight. Losing vision means not being able to read, recognize faces or find objects. Macular degeneration is one of the major...

Im Focus: Small Protein, Big Impact

In meningococci, the RNA-binding protein ProQ plays a major role. Together with RNA molecules, it regulates processes that are important for pathogenic properties of the bacteria.

Meningococci are bacteria that can cause life-threatening meningitis and sepsis. These pathogens use a small protein with a large impact: The RNA-binding...

Im Focus: K-State study reveals asymmetry in spin directions of galaxies

Research also suggests the early universe could have been spinning

An analysis of more than 200,000 spiral galaxies has revealed unexpected links between spin directions of galaxies, and the structure formed by these links...

Im Focus: New measurement exacerbates old problem

Two prominent X-ray emission lines of highly charged iron have puzzled astrophysicists for decades: their measured and calculated brightness ratios always disagree. This hinders good determinations of plasma temperatures and densities. New, careful high-precision measurements, together with top-level calculations now exclude all hitherto proposed explanations for this discrepancy, and thus deepen the problem.

Hot astrophysical plasmas fill the intergalactic space, and brightly shine in stellar coronae, active galactic nuclei, and supernova remnants. They contain...

Im Focus: Biotechnology: Triggered by light, a novel way to switch on an enzyme

In living cells, enzymes drive biochemical metabolic processes enabling reactions to take place efficiently. It is this very ability which allows them to be used as catalysts in biotechnology, for example to create chemical products such as pharmaceutics. Researchers now identified an enzyme that, when illuminated with blue light, becomes catalytically active and initiates a reaction that was previously unknown in enzymatics. The study was published in "Nature Communications".

Enzymes: they are the central drivers for biochemical metabolic processes in every living cell, enabling reactions to take place efficiently. It is this very...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Dresden Nexus Conference 2020: Same Time, Virtual Format, Registration Opened

19.05.2020 | Event News

Aachen Machine Tool Colloquium AWK'21 will take place on June 10 and 11, 2021

07.04.2020 | Event News

International Coral Reef Symposium in Bremen Postponed by a Year

06.04.2020 | Event News

 
Latest News

New image of a cancer-related enzyme in action helps explain gene regulation

05.06.2020 | Life Sciences

Silicon 'neurons' may add a new dimension to computer processors

05.06.2020 | Physics and Astronomy

Protecting the Neuronal Architecture

05.06.2020 | Life Sciences

VideoLinks
Science & Research
Overview of more VideoLinks >>>