Featured Research

from universities, journals, and other organizations

Cystic Fibrosis Testing: Next Steps

Date:
April 27, 2009
Source:
American Journal of Pathology
Summary:
Three reports describing advances in cystic fibrosis genetic testing appear in the latest issue of The Journal of Molecular Diagnostics.

Three reports describing advances in cystic fibrosis genetic testing appear in The Journal of Molecular Diagnostics.

Related Articles


Cystic fibrosis is a hereditary disease that affects mucus secretions in the lungs, liver, pancreas, and intestines. Approximately 1 in 4000 children born in the United States is affected with cystic fibrosis. Cystic fibrosis is an autosomal recessive disease caused by mutations in the CFTR gene; cystic fibrosis patients must inherit a mutated gene from each parent.

Genetic screening for cystic fibrosis carrier mutations (one copy of a mutated gene) is universally recommended for the reproductive-age population. Current professional guidelines call for screening a panel of 23 common mutations in CFTR; however, many laboratories screen for an expanded panel of mutations. In the May 2009 issue of The Journal of Molecular Diagnostics, three articles describe improvements in cystic fibrosis genetic screening.

In one article, Pratt et al describes a project coordinated by the Centers for Disease Control and Prevention's Genetic Testing Reference Material (GeT-RM) Program to develop a set of reference materials for the expanded cystic fibrosis panel of mutations. The public availability of these materials will help to ensure the accuracy of cystic fibrosis genetic testing. The reports by Schwartz et al and Hantash et al identify mutations that may lead to false screening results, either due to a large deletion in CFTR or because of mutations that interfere with laboratory screening methods.

Wayne Grody, of the UCLA School of Medicine, Los Angeles, CA, who is not affiliated with these studies, states "Taken together, these three papers demonstrate how the widespread and thoughtful experience with [cystic fibrosis] mutation testing and screening continues to reveal new insights about the mutational alleles of the CFTR gene and further refinements in how best to detect them and assure appropriate quality control while doing so."


Story Source:

The above story is based on materials provided by American Journal of Pathology. Note: Materials may be edited for content and length.


Journal References:

  1. Hantash FM, Rebuyon A, Peng M, Redman JB, Sun W, Strom CM. Apparent homozygosity of a novel frame shift mutation in the CFTRA gene because of a large deletion. J Mol Diagn, 2009, 253-256
  2. Pratt et al. Development of Genomic Reference Materials for Cystic Fibrosis Genetic Testing. Journal of Molecular Diagnostics, 2009; 11 (3): 186 DOI: 10.2353/jmoldx.2009.080149
  3. Schwartz KM, Pike-Buchanan LL, Muralidharan K, Redman JB, Wilson JA, Jarvis M, Cura MG, Pratt VM. Identification of cystic fibrosis (CF) variants by PCR/oligonucleotide ligation (OLA) assay. J Mol Diagn, 2009, 211-215
  4. Grody et al. Cystic Fibrosis Testing Comes of Age. Journal of Molecular Diagnostics, 2009; 11 (3): 173 DOI: 10.2353/jmoldx.2009.090024

Cite This Page:

American Journal of Pathology. "Cystic Fibrosis Testing: Next Steps." ScienceDaily. ScienceDaily, 27 April 2009. <www.sciencedaily.com/releases/2009/04/090427102225.htm>.
American Journal of Pathology. (2009, April 27). Cystic Fibrosis Testing: Next Steps. ScienceDaily. Retrieved October 24, 2014 from www.sciencedaily.com/releases/2009/04/090427102225.htm
American Journal of Pathology. "Cystic Fibrosis Testing: Next Steps." ScienceDaily. www.sciencedaily.com/releases/2009/04/090427102225.htm (accessed October 24, 2014).

Share This



More Health & Medicine News

Friday, October 24, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

IKEA Desk Converts From Standing to Sitting With One Button

IKEA Desk Converts From Standing to Sitting With One Button

Buzz60 (Oct. 24, 2014) IKEA is out with a new convertible desk that can convert from a sitting desk to a standing one with just the push of a button. Jen Markham explains. Video provided by Buzz60
Powered by NewsLook.com
Ebola Protective Suits Being Made in China

Ebola Protective Suits Being Made in China

AFP (Oct. 24, 2014) A factory in China is busy making Ebola protective suits for healthcare workers and others fighting the spread of the virus. Duration: 00:38 Video provided by AFP
Powered by NewsLook.com
WHO: Millions of Ebola Vaccine Doses by 2015

WHO: Millions of Ebola Vaccine Doses by 2015

AP (Oct. 24, 2014) The World Health Organization said on Friday that millions of doses of two experimental Ebola vaccines could be ready for use in 2015 and five more experimental vaccines would start being tested in March. (Oct. 24) Video provided by AP
Powered by NewsLook.com
Doctor in NYC Quarantined With Ebola

Doctor in NYC Quarantined With Ebola

AP (Oct. 24, 2014) An emergency room doctor who recently returned to the city after treating Ebola patients in West Africa has tested positive for the virus. He's quarantined in a hospital. (Oct. 24) Video provided by AP
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