1.6/1.5 mutations Flashcards
Missense sub mutation plus effect
When one amino acid is swapped for another amino acid. Non functional protein or little effect.
What is the Genome
All of the DNA that makes up an organism
Duplication chromosome mutation
A section of a chromosome is being doubled from its homologous partner
Deletion of a gene
When a nucleotide is removed from the DNA strand which becomes shortened- known as frame shift
Insertion gene mutation
When a nucleotide is added to the DNA strand which becomes longer
Nonsense sub mutation
A premature stop codon which shortens protein synthesis
Substitution gene mutation
When a nucleotide is swapped for another on the DNA strand
Inversion chromosome mutation
A sections of a chromosome being reversed. Creates non viable gametes.
Deletion chromosome mutation
A section of a chromosome being removed
Splice site sub mutation
Some introns that have not been removed or if some exons are not included in the mature RNA transcript. Creates a non functional protein.
Translocation chromosome mutation
A section a chromosome is swapped for a different section of another chromosome with the non-homologous partner
Non coding genes do?
Regulate transcription.
Are transcribed but are never translated
Percentages of coding and non coding
98% non-coding
2% coding
