Biology definition: Aframeshift mutationis a type ofgene mutationin which the addition or deletion of one or morenucleotidescauses a shift in thereading frameof thecodonsin themRNA, which may lead to the alteration in theamino acidsequence at proteintranslation.Variant:frame shift mutation.Synonyms...
Any mutation of the HEXA gene will cause Tay-Sachs disease, and more than 80 such mutations have been identified. One of the more common mutations that causes Tay-Sachs disease is a single-nucleotide deletion frameshift mutation (the 1510th nucleotide, a cytosine (C), is removed). Which is...
MutationHot TemperatureA series of ultraviolet light-induced revertants from the mutant am6, mapping at the left-hand ("N-terminal") end of the structural gene for NADP-specific glutamate dehydrogenase, have been shown to have amino acid substitutions in the N-terminal tryptic peptide. Only a ...
- An example of a frameshift mutation is Tay-Sachs disease, which can occur due to the deletion of nucleotides in the gene that encodes the enzyme hexosaminidase A. Show More | ShareSave Class 12BIOLOGYPRINCIPLES OF INHERITANCE AND VARIATION...
7 Collins FS: Cystic fibrosis: molecular biology and therapeutic implications. Science 1992; 256: 774–779. 8 Hergersberg M, Balakrishnan J, Bettecken T et al: A new mutation, 3905insT, accounts for 4.8% of 1173 CF chromosomes in Switzerland and causes a severe phenotype. Hum Genet 1997;...
The two brothers with AHC and HHG caused by a novel DAX1 mutation, reached tall final heights, despite of the disadvantageous prednisolone treatment during their childhood. We assume that the long-term lack of the sexual hormone substitution was a significant reason of their above average height...