Describe the abnormalities which can occur in protein

synthesis

Mistakes in DNA replication

DNA replication is not perfect. Errors occur in DNA replication, when the
incorrect base is incorporated into the growing DNA strand. This leads to
mismatched base pairs, or mispairs. DNA polymerases have proofreading activity,
and a DNA repair enzymes have evolved to correct these mistakes. Occasionally,
mispairs survive and are incorporated into the genome in the next round of
replication. These mutations may have no consequence, they may result in the
death of the organism, they may result in a genetic disease or cancer; or they
may give the organism a competitive advantage over its neighbours, which leads
evolution by natural selection.

Insertions and Deletions

Sometimes, copying errors can insert or delete extra letters of the
genetic code. Because these insertions and deletions, called indels,
can make the protein produced by the gene much shorter or much
longer, these errors can have a significant impact. Indels can have a
dramatic effect on the protein's structure and function. Insertion or
deletion of a single letter can sometimes cause a frameshift mutation,
in which the entire amino acid sequence of the resulting protein is
changed.
• Deletion: remove one or more nucleotides from the DNA strand
• Insertion: add one or more extra nucleotides into the DNA
• frameshift mutation: result in the changes of several amino acids
and changes into a stop codon (resulting in transcription and
translation errors)
Gene or Region Duplication
Sometimes errors during DNA replication can duplicate an entire gene
or region of a genome. This type of error can cause more of a protein
to be produced, because after duplication, there are two genes that
encode it rather than one. Gene duplication appears to have been
important in evolution, because the duplicated copy of a gene can
accumulate other mutations and perhaps perform a different function
than that in a parent.

Single-Letter Swaps
A point mutation is a single-letter swap – an exchange of two bases,
adenine to cytosine (a change in a single nucleotide), for example, at a
single location in the DNA molecule. Since the sequence of letters in a
gene determines the sequence of amino acids in the protein it
encodes, a point mutation can change the amino acid sequence of the
resulting protein. a change in the protein's amino acid sequence can
have results for example, sickle cell disease occurs when a single-
point mutation in the gene that encodes the hemoglobin molecule
results in deformed red blood cells.
Types of point mutation:
- point mutation( a change in a single base pair in DNA)
a change in in a single nitrogenous base can change the entire
structure or a protein because a change in a single amino acid can
affect the shape of the protein.
- silent mutation (no amino acid change)
- nonsense mutation (one codon changes into a stop codon)
- missense mutation (amino acid change)