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Exon trapping or 'gene trapping' is a molecular biology technique that exploits the existence of the intron-exon splicing to find new genes. [13] The first exon of a 'trapped' gene splices into the exon that is contained in the insertional DNA .
Exon skipping is used to restore the reading frame within a gene. Genes are the genetic instructions for creating a protein, and are composed of introns and exons.Exons are the sections of DNA that contain the instruction set for generating a protein; they are interspersed with non-coding regions called introns.
Exon shuffling is a molecular mechanism for the formation of new genes. It is a process through which two or more exons from different genes can be brought together ectopically , or the same exon can be duplicated , to create a new exon-intron structure. [ 1 ]
Exon trapping is a molecular biology technique to identify potential exons in a fragment of eukaryote DNA of unknown intron-exon structure. [1] This is done to determine if the fragment is part of an expressed gene .
Alternative splicing produces three protein isoforms.Protein A includes all of the exons, whereas Proteins B and C result from exon skipping.. Alternative splicing, or alternative RNA splicing, or differential splicing, is an alternative splicing process during gene expression that allows a single gene to produce different splice variants.
RNA splicing is a process in molecular biology where a newly-made precursor messenger RNA (pre-mRNA) transcript is transformed into a mature messenger RNA ().It works by removing all the introns (non-coding regions of RNA) and splicing back together exons (coding regions).
It is an example of a rare disease, affecting fewer than one per million people, whose patients have been positively impacted by whole-exome sequencing. Thanks to this method, patients who formerly did not exhibit the classical mutations associated with Bartter Syndrome were formally diagnosed with it after the discovery that the disease has ...
This example provided proof of concept of the use of whole-exome sequencing as a clinical tool in evaluation of patients with undiagnosed genetic illnesses. This report is regarded as the first application of next generation sequencing technology for molecular diagnosis of a patient.