8 results about "Nonsense mutation" patented technology

In genetics, a point-nonsense mutation is a point mutation in a sequence of DNA that results in a premature stop codon, or a point-nonsense codon in the transcribed mRNA, and in a truncated, incomplete, and usually nonfunctional protein product. The functional effect of a point-nonsense mutation depends on the location of the stop codon within the coding DNA. For example, the effect of a point-nonsense mutation depends on the proximity of the point-nonsense mutation to the original stop codon, and the degree to which functional subdomains of the protein are affected. A point-nonsense mutation differs from a missense mutation, which is a point mutation where a single nucleotide is changed to cause substitution of a different amino acid. Some genetic disorders, such as thalassemia and DMD, result from point-nonsense mutations.