The genetics of the cystic fibrosis gene

This means that CF is inherited.

The genetics of the cystic fibrosis gene

Follow-up testing to identify mutations in individuals with a clinical diagnosis of cystic fibrosis CF and a negative targeted mutation analysis for the common mutations Identification of mutations in individuals with atypical presentations of CF eg, congenital bilateral absence of the vas deferens or pancreatitis Identification of mutations in individuals where detection rates by targeted mutation analysis are low or unknown for their ethnic background Identification of patients who may respond to cystic fibrosis transmembrane conductance regulator CFTR potentiator therapy This is not the preferred genetic test for carrier screening or initial diagnosis.

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Cystic fibrosis CFin the classic form, is a severe autosomal recessive disorder characterized by a varied degree of chronic obstructive lung disease and pancreatic enzyme insufficiency.

Clinical diagnosis is generally made based on these features, combined with a positive sweat chloride test or positive nasal potential difference. CF can also have an atypical presentation and may manifest as congenital bilateral absence of the vas deferens CBAVDchronic idiopathic pancreatitis, bronchiectasis, or chronic rhinosinusitis.


Several states have implemented newborn screening for CF, which identifies potentially affected individuals by measuring immunoreactive trypsinogen in a dried blood specimen collected on filter paper. To date, over 1, mutations have been described within the CF gene, named cystic fibrosis transmembrane conductance regulator CFTR.

Cystic Fibrosis

Most of the remaining mutations are rather rare, although some show a relatively higher prevalence in certain ethnic groups or in some atypical presentations of CF, such as isolated CBAVD. Full gene analysis, sequencing and dosage analysis of the CFTR gene, is utilized to detect private mutations.

Reference Values An interpretive report will be provided. Interpretation All detected alterations are evaluated according to American College of Medical Genetics recommendations.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances A small percentage of individuals who have a diagnosis of cystic fibrosis CF may have a mutation that is not identified by this method eg, promoter mutations, deep intronic alterations.

The absence of a mutation stherefore, does not eliminate the possibility of positive carrier status or the diagnosis of CF.

For carrier testing, it is important to first document the presence of a cystic fibrosis transmembrane conductance regulator CFTR gene mutation in an affected family member.

In some cases, DNA alterations of undetermined significance may be identified. Rare polymorphisms exist that could lead to false-negative or false-positive results.

If results obtained do not match the clinical findings, additional testing should be considered. Test results should be interpreted in the context of clinical findings, family history, and other laboratory data.

Single gene disorders can be inherited from parents This means that CF is inherited. A child will be born with CF only if two CF genes are inherited--one from the mother and one from the father.
Cystic Fibrosis Targeted Mutation Analysis | CFTR2 is a website that provides information for patients, researchers, and the general public about specific variants in what is commonly referred to as the cystic fibrosis CF gene. For each variant or variant combination included in the database, the website will provide information about:

Errors in our interpretation of results may occur if information given is inaccurate or incomplete. In addition to disease-related probes, the multiplex ligation-dependent probe amplification technique utilizes probes localized to other chromosomal regions as internal controls.

In certain circumstances, these control probes may detect other diseases or conditions for which this test was not specifically intended. Results of the control probes are not normally reported.

However, in cases where clinically relevant information is identified, the ordering physician will be informed of the result and provided with recommendations for any appropriate follow-up testing.

Clinical Reference Recommendations for in-depth reading of a clinical nature 1. Standards and guidelines for the interpretation of sequence variants:Cystic Fibrosis (CF) is the most common fatal genetic disease in the United States today.

CF is an autosomal recessive disease that occurs approximately one out of 3, live births (Cystic Fibrosis Foundation, ). Sep 22,  · In , the American College of Medical Genetics (ACMG) Cystic Fibrosis (CF) Carrier Screening Working Group, as part of an ongoing effort to ensure that the cystic fibrosis carrier screening programs are current, initiated a review of the scientific literature and .

The genetics of the cystic fibrosis gene

Cystic fibrosis genetics: from molecular understanding to clinical application. Formation of a North American Cystic Fibrosis Gene Modifier Consortium — composed of investigators at the University of North Carolina, USA; the Hospital for Sick Kids in Toronto, Canada; and Johns Hopkins University in Baltimore, Maryland, USA - facilitated.

Explore the what's and why's of gene therapy research, includingan in-depth look at the genetic disorder cystic fibrosis and how gene therapy could potentially be used to treat it.

The genetics of the cystic fibrosis gene

Supported by a Science Education Partnership Award (SEPA) Grant No. R25RR from the National Center for Research. Association (ICFMA) now Cystic Fibrosis Worldwide, the Cystic Fibrosis Foundation (CFF), the European Cystic Fibrosis Thematic Network (ECFTN) and the European Cystic Fibrosis Society (ECFS).

The meetings considered a range of topics including the Distribution of . The first cystic fibrosis gene therapy experiments have involved lung cells because these cells are readily accessible and because lung damage is the most common, life-threatening problem in CF patients.

BBC Bitesize - National 4 Biology - Gene therapy and cystic fibrosis