Gene Mutations: Decoding DNA
Sequence Changes
Gene mutations manifest as alterations in the DNA nucleotide
sequence. These shifts reshape codons, thus impacting the sequence of amino
acids within a polypeptide.
Frame Shift Mutations:
Reshaping Sequences
Frequently arising from nucleotide insertions or deletions within
DNA, frame shift mutations yield entirely novel codon sequences, often
resulting in nonfunctional protein formation.
Point Mutations: Precision
Alterations
Point mutations involve the modification of a single nucleotide,
leading to specific codon changes. An instance is the substitution of valine
for glutamate in the hemoglobin beta chain, culminating in sickle cell disease.
Such mutations can trigger enzyme deficiencies, affecting biochemical pathways
like the incomplete conversion of homogentisic acid to 4 maleyacetoacetic acid,
contributing to alkaptonuria.
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| Point Mutation |
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