Cystic fibrosis testing -- next steps

Apr 27, 2009

Three reports describing advances in cystic fibrosis genetic testing appear in the May 2009 issue of The Journal of Molecular Diagnostics.

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 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 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."

More information:

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

Pratt VM, Caggana M, Bridges C, Buller AM, DiAntonio L, Highsmith WE, Holtegaard LM, Muralidharan K, Rohlfs EM, Tarleton J, Toji L, Barker SD, Kalman LV: Development of genomic reference materials for cystic fibrosis testing. J Mol Diagn 2009, 186-193

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

Source: American Journal of Pathology (news : web)

Explore further: Oral contraceptive equal to antibiotics for acne care

add to favorites email to friend print save as pdf

Related Stories

Protein opens hope of treatment for cystic fibrosis patients

Sep 11, 2008

Scientists have finally identified a direct role for the missing protein that leaves cystic fibrosis patients open to attack from lung-damaging bacteria, the main reason most of them die before their 35th birthday, scientists ...

Recommended for you

Oral contraceptive equal to antibiotics for acne care

1 hour ago

(HealthDay)—At six months, oral contraceptive pills (OCPs) are comparable to systemic antibiotics for acne management, according to a review published in the September issue of the Journal of the American Ac ...

Photodynamic therapy vs. cryotherapy for actinic keratoses

2 hours ago

Photodynamic therapy (PDT, which uses topical agents and light to kill tissue) appears to better clear actinic keratoses (AKs, a common skin lesion caused by sun damage) at three months after treatment than cryotherapy (which ...

US official warns Ebola outbreak will get worse

4 hours ago

A third top doctor has died from Ebola in Sierra Leone, a government official said Wednesday, as a leading American health official warned that the outbreak sweeping West Africa would get worse before it ...

UN releases $1.5mn to help DR Congo fight Ebola

6 hours ago

The United Nations on Wednesday allocated $1.5 million (1.1 million euros) to help the Democratic Republic of Congo fight Ebola, just days after the country confirmed its first cases this year.

User comments : 0