Featured Research

from universities, journals, and other organizations

Gene Chip Technology Will Lead To Quick And Accurate Genetic Testing For Cystic Fibrosis

Date:
June 29, 2004
Source:
European Society Of Human Reproduction And Embryology
Summary:
A single genetic test that is capable of detecting all mutations involved in the development of cystic fibrosis could be just a few years away, the 20th annual conference of the European Society of Human Reproduction and Embryology heard on Monday 28 June.

A single genetic test that is capable of detecting all mutations involved in the development of cystic fibrosis could be just a few years away, the 20th annual conference of the European Society of Human Reproduction and Embryology heard on Monday 28 June.

Related Articles


Researchers at Monash University in Melbourne, Australia, have discovered that recently developed microarray (or "gene chip") technology* can be used successfully to detect one of the commonest cystic fibrosis (CF) genetic mutations with 100% accuracy.

This means that, once the technology has been refined, gene chips could be used to detect all CF mutations in a single, quick and easy test that would produce almost immediate results. The analysis could be carried out on embryos during preimplantation genetic diagnosis (PGD), so that only healthy embryos would be transferred to the woman. The technology could be used during PGD for other genetic diseases too.

Ms Chelsea Salvado, a PhD student working with Professor Alan Trounson and Dr David Cram at the Institute of Reproduction and Development at Monash, explained: "Currently there are many CF mutations diagnosed in the PGD laboratory, each requiring the development of a different diagnostic technique. However, the introduction of microarray technology would provide a uniform, single test, enabling PGD to be offered to couples presenting with different mutations without first having to undergo an extensive pre-clinical work-up. At present, this work-up can take anywhere between a week and six months to complete, depending on how easy it is to match the parental mutations with the markers used to prevent misdiagnosis."

Until now, the possibilities of using microarray technology in PGD had been largely unexplored. Ms Salvado set out to discover the diagnostic potential of gene chips by testing them on the ∆F508 mutation, which is the commonest CF mutation, accounting for 80% of all CF mutations worldwide.

She created gene chips that held information on the normal and diseased versions of ∆F508 and then tested them on DNA samples obtained from single cells and from groups of ten cells. Despite some initial problems with amplifying the samples successfully, meaning that an extra step had to be added to the process, the final results showed that the gene chips could diagnose the ∆F508 mutation with 100% accuracy in the 30 samples investigated.

"This proved the concept that the ∆F508 mutation can be reliably and accurately diagnosed at the single cell level using microarray technology," said Ms Salvado. "Further research is needed to improve the method, although many of the problems associated with the amplification of single cells would be reduced or eliminated if blastocyst biopsy (biopsy of 10 cells) was the method of choice in PGD."

There are over 1,000 mutations known to cause CF and their frequency varies between countries and communities. "For example, in Australia 10 mutations are diagnosed routinely, all of which involve a mutation at a single point on the cystic fibrosis gene. Current work within our laboratory has shown that these point mutations may be detected with as much reliability and accuracy as the ∆F508 mutation," said Ms Salvado.

It will be at least two to three years before this discovery starts to benefit patients. She said: "This research needs to be enhanced by commercial microarray companies who have the capacity and the resources to develop more complex arrays with many different CF mutations. Further development of the method is critical to ensuring reliable microarray-based genetic diagnosis."

However, Ms Salvado believes that her research will have a significant impact in the future on couples carrying CF mutations. "Microarray technology will lead to semi-automated genetic testing for both PGD and prenatal diagnosis, providing a rapid diagnosis, thus reducing the stress of couples waiting for a result. The introduction of microarray technology could lead to PGD being offered for all genetic diseases in the future."

###

Abstract no: O-035 (Monday 10.30 hrs CET Hall 7)

Notes

*Microarrays use DNA chips to detect the expression patterns of thousands of genes simultaneously.


Story Source:

The above story is based on materials provided by European Society Of Human Reproduction And Embryology. Note: Materials may be edited for content and length.


Cite This Page:

European Society Of Human Reproduction And Embryology. "Gene Chip Technology Will Lead To Quick And Accurate Genetic Testing For Cystic Fibrosis." ScienceDaily. ScienceDaily, 29 June 2004. <www.sciencedaily.com/releases/2004/06/040629020818.htm>.
European Society Of Human Reproduction And Embryology. (2004, June 29). Gene Chip Technology Will Lead To Quick And Accurate Genetic Testing For Cystic Fibrosis. ScienceDaily. Retrieved March 30, 2015 from www.sciencedaily.com/releases/2004/06/040629020818.htm
European Society Of Human Reproduction And Embryology. "Gene Chip Technology Will Lead To Quick And Accurate Genetic Testing For Cystic Fibrosis." ScienceDaily. www.sciencedaily.com/releases/2004/06/040629020818.htm (accessed March 30, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Monday, March 30, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Soda, Salt and Sugar: The Next Generation of Taxes

Soda, Salt and Sugar: The Next Generation of Taxes

Washington Post (Mar. 30, 2015) — Denisa Livingston, a health advocate for the Dinι Community Advocacy Alliance, and the Post&apos;s Abby Phillip discuss efforts around the country to make unhealthy food choices hurt your wallet as much as your waistline. Video provided by Washington Post
Powered by NewsLook.com
UnitedHealth Buys Catamaran

UnitedHealth Buys Catamaran

Reuters - Business Video Online (Mar. 30, 2015) — The $12.8 billion merger will combine the U.S.&apos; third and fourth largest pharmacy benefit managers. Analysts say smaller PBMs could also merge. Fred Katayama reports. Video provided by Reuters
Powered by NewsLook.com
S. Leone in New Anti-Ebola Lockdown

S. Leone in New Anti-Ebola Lockdown

AFP (Mar. 28, 2015) — Sierra Leone imposed a three-day nationwide lockdown Friday for the second time in six months in a bid to prevent a resurgence of the deadly Ebola virus. Duration: 01:17 Video provided by AFP
Powered by NewsLook.com
These Popular Antibiotics Can Cause Permanent Nerve Damage

These Popular Antibiotics Can Cause Permanent Nerve Damage

Newsy (Mar. 27, 2015) — A popular class of antibiotic can leave patients in severe pain and even result in permanent nerve damage. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
 
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:  

Breaking News:

Strange & Offbeat Stories

 

Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:  

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile iPhone Android Web
Follow Facebook Twitter Google+
Subscribe RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins