Recommended

Disease-modifying Genes And Monogenic Disorders...

0 votes
Disease-modifying Genes And Monogenic Disorders: Experience In Cystic Fibrosis
Author: Sabina Gallati
Publisher: Derivative Works
14 pages
One time payment: €0.00
Required subscription: Free
Type of publication: Article
ISBN/ISSN: 1178-704X
DOI: 10.2147/TACG.S18675
Follow this publisher

Share this publication:

Description:

Abstract: The mechanisms responsible for the determination of phenotypes are still not well understood; however, it has become apparent that modifier genes must play a considerable role in the phenotypic heterogeneity of Mendelian disorders. Significant advances in genetic technologies and molecular medicine allow huge amounts of information to be generated from individual samples within a reasonable time frame. This review focuses on the role of modifier genes using the example of cystic fibrosis, the most common lethal autosomal recessive disorder in the white population, and discusses the advantages and limitations of candidate gene approaches versus genome-wide association studies. Moreover, the implications of modifier gene research for other monogenic disorders, as well as its significance for diagnostic, prognostic, and therapeutic approaches are summarized. Increasing insight into modifying mechanisms opens up new perspectives, dispelling the idea of genetic disorders being caused by one single gene.

About the publisher:

We are a publishing house devoted to reuse CC-BY licensed published materials.

 

Using CC-BY licenses:

YOU ARE FREE TO:

  • Adapt — remix, transform, and build upon the material
  • for any purpose, even commercially.
  • The licensor cannot revoke these freedoms as long as you follow the license terms.

UNDER THE FOLLOWING TERMS:

  • No additional restrictions — You may not apply legal terms or technological measures that legally restrict others
    from doing anything the license permits.

NOTICES:

  • You do not have to comply with the license for elements of the material in the public domain or where your use is permitted by an applicable exception or limitation.
  • No warranties are given. The license may not give you all of the permissions necessary for your intended use. For example, other rights such as publicity, privacy, or moral rights may limit how you use the material.

Select a payment method