THE MOLECULAR BASIS OF INHERITANCE
GENE MUTATION
Question
[CLICK ON ANY CHOICE TO KNOW THE RIGHT ANSWER]
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deletion frameshift
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insertion frameshift
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point mutation or substitution
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nonsense
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Detailed explanation-1: -Listen to pronunciation. (FRAYM-shift myoo-TAY-shun) An insertion or deletion involving a number of base pairs that is not a multiple of three, which consequently disrupts the triplet reading frame of a DNA sequence.
Detailed explanation-2: -Frameshift mutation yields truncated, dysfunctional product proteins, leading to loss-of-function, genetic disorders or even death. Frameshift mutations have been considered as mostly harmful and of little importance for the molecular evolution of proteins.
Detailed explanation-3: -Deletion. Deletion mutations are actually the cause for a large number of genetic diseases, such as two-thirds of cystic fibrosis cases and the cat cry syndrome, which is so-called because children with this syndrome often have a cry that sounds similar to a cat meowing.
Detailed explanation-4: -Antisense oligonucelotide-mediated exon skipping may be another potential approach for correcting frameshift mutations. The principle of this approach is to use anti-sense oligonucleotides to skip a mutation-containing exon and generate an in-frame deletion and a functional protein.