MUTATION
Is a change in a cell’s DNA’ sequence ( either in a protein coding gene or in non- coding DNA such as an enhancer.)
Th significance of mutations
ALLELES
Mutatation create new alleles. They are a variation of a gene.
Exceptfor identical twins we all have different combinations of for all our genes
POINT MUTATION
Substitution of one DNA base for another
SUBSTITUTION MUTATION
It is the replacement of one DNA base with another.
It is a silent mutation
SILENT MUTATIONS
When a mutation occurs but the mutated gene still encodes the same protein as the original gene version.
They occur because more than one codon encodes most amino acids
MISSENSE mutation
occurs when a substition mutation changes a base triplet so that it specifies a different amino acid.
This may drastically change the protein’s shape and thus its function
NONSENSE MUTATIONS
A base triplet specifying an amin acid changes into one that encodes a stop codon (cystic fibrosis)
3 types of POINT MUTATIONS
2 Types of SUBSTITUTION MUTATIONS
eg. BASE INSERTIONS AND DELETIONS
FRAMESHIFT MUTATION
FRAMESHIFT MUTATION
adds or deletes nucleotides in any number other than a multiple of three changing the reading frame and altering the amino acid sequence.
EXPANDING REPEAT MUTATION
the number of copies of 3 or 4 nucleotides sequence increases over several generations.
With each generation the symptoms begin earlier or more sever ,or both.
REPLICATION ERRORS/ SPONTANEOUS SUSTITUTION MUTATON
usually originates a DNA replication error.
Replications errors can also cause insertions and deletions, especially ingenues with repeated base sequences.
MUTAGEN
Is any external agent that induces mutations
Egs
UV radiation, X-rays, nuclear accidents, chemicals
List the causes of mutations
2.
TRANSPOSABLE ELEMENT MUTaTIONS
or TRANSPOSON is a Dna sequence that can jump within the genome.
It can insert itself randomly into chromosomes disrupting a gene’s function or leaving a gap in a gene when it leaves.
GERMLINE MUTATION
occurs in the cells that give rise to sperm and eggs
Why are germline mutations heritable
They are heritable because mutated Dna will be passed down to at least some of the sex cells that the organism produces
the result of inheriting a germ line mutation
every cell in that organism produces
Non heritable mutations
SOMATIC MUTATIONS
SOMATIC MUTATIONS
occurs in non sex cells.
They are non- heritable
The mutation is not passed down to their offsprings
Why are mutations important
ALLELES
Variants of a gene
Except for identical twins everyone has a different combination of genes