KA4 U1 Flashcards
What are mutations
Changes in DNA that can results in no protein or an altered protein being produced.
2 types of mutations
• single gene mutations
• chromosome mutation
Single gene mutations involve what
They involve the change of DNA nucleotide sequence
we get SID, s is the most confused as it has 3 categories
Substitution is the nucleotide replacement
Missense
Nonsense
Splice-split
Missense
One amino acid is changed for another
= could result in a nonfunctional protein or have little affect on the protein
Nonsense
Premature stop codon being produced
Results in a shorter protien
Splice split
Some introns being retained and or some exons not being included in primary transcript
Insertation
Nucleotide is added
Deletion
Nucleotide removed
Chromosome structure mutations affect where?
The structure of chromosome in cells
What can the change of chromosomal structure do?
Change number or sequence of genes in chromosome
4 types of chromosome
DDIT
Deletion
Deletion - a section of chromosome removed
Duplication
A section of a chromosome is added from its homologous partner
Inversion
The section of a chromosome is reversed
Translocation
The section of a chronometer is added to a chromosome not its homologous partner
Chromosomes mutations can be what
Lethal, due to the substantial change they make to genetic information