gene mutation Flashcards
what does the term ‘mutation’ mean?
mutation is defined as the change in the sequence of DNA, number of chromosomes, or structure of chromosomes in an organism
what is a gene mutation?
a gene mutation is the change in the sequence of nucleotides of a gene
what may change in a gene mutation?
a gene mutation may change the sequence of amino acids in a polypeptide chain
what does a gene mutation affect?
this may affect the structure and function of the protein, and thus affecting the characteristic (phenotype) of the organism
what can a gene mutation give rise to?
a gene mutation can give rise to new alleles which code for potential new traits, and also result inheritable disease
what are the 3 types of gene mutation?
- substitution
- insertion
- deletion
what is the definition of ‘substitution mutation’?
a substitution mutation is defined as when 1 or more nucleotide(s) in the nucleotide sequence of the gene is or are replaced by other nucleotides
what is the definition of ‘insertion mutation’
an insertion mutation occurs when 1 or more nucleotide(s) is or are added into the nucleotide sequence of the gene
what is the definition of ‘deletion mutation’?
a deletion mutation occurs when 1 or more nucleotides(s) is or are removed form the nucleotide sequence of the gene
what is the most common type of gene mutation?
SUBSTITUION MUTATION
what are the 3 possible outcomes for a substitution mutation, depending on the position of the nucleotide affected?
- silent mutation
- missense mutation
- nonsense mutation
why does the substitution of 1 or more nucleotides may result in silent mutation?
this is because the genetic code is degenerate, whereby there are many different codons can still code for the same amino acid
why is the function of the protein unaffected by a silent mutation?
this is because the silent mutation results in no change of codon in the mRNA, resulting in the same amino acid with the same R group upon translation
hence, there is no change in the amino acid sequence of the polypeptide chain
therefore, the folding of the polypeptide chain into its precise, compact 3 dimensional conformation is not affected, and properties of the protein are unaffected.
as a result, the protein remains functional
what is the effect of a substitution mutation (formation of different amino acid(s)) on the mRNA sequence?
the nucleotide change in the gene will change the mRNA sequence upon translation
what is the effect of a substitution reaction (formation of different amino acid) on the mRNA?
this causes the codon(s) in the mRNA to change