1.5 and 1.6 structure of the genome and mutation Flashcards
Genome definition
The entire genetic hereditary information of DNA (both coding and non coding regions of DNA.)
What do non coding regions of DNA do
Regulate transcription
Percentage of DNA in humans that don’t code for proteins
98%
Percentage which code for proteins in Humans
2%
Gene definition
A section of DNA that codes for a protein
Hereditary
Passed from parent to child
Single gene mutations def
Where one gene of DNA is altered, by the alteration of nucleotide order, resulting in one type of protein being altered.
Mutation definition
A random and spontaneous change to an organisms genetic information
Mutation effect on proteins
Different proteins are produced or proteins aren’t synthesised
Types of single gene mutations
DIS
Deletion
Insertion
Substitution
(Single Gene) Deletion definition
Where a nucleotide or nucleotides are removed from a gene of DNA making the DNA strand and gene shorter.
(Gene) deletion result
All codons and amino acids are altered after the mutation.
(Gene) insertion definition
Where a nucleotide or nucleotides are added to a gene of DNA , increasing the length of the strand and the gene.
(Gene) insertion result
All amino acids and the codons after the mutation are all altered.
Frameshift mutations definition
Single gene mutations where there is an addition of a nucleotide or a removal of a nucleotide, resulting in all codons and amino acids being altered after the mutation.
Frameshift gene mutations examples
Insertion and deletion
Substitution gene mutation
Where nucleotides are replaced by different nucleotides, on a gene of DNA
Types of substitution
Nonsense
Missense
Splice site
Nonsense substitution definition
Where a stop codon is prematurely produced, resulting in a smaller protein being produced than expected.
Misense definition
Where one amino acid is replaced by another amino acid in translation, resulting an a considerable change to the protein or very little change in a protein.
Splice site definition
Where introns are spliced into a mature transcript of mRNA in RNA splicing, resulting in dis functional proteins.
Types of chromosome mutations
Deletion
Inversion
Translocation
Duplication
(Chromosomes) Deletion definition
Where a section of a chromosome is removed, resulting in less genes.
Inversion definition
Where a section of a chromosome is reversed, resulting in no viable gametes.
Translocation definition
Where a section of one chromosome is swapped with another chromosome which is not its homologous partner.
Duplication definition
Where one section of a chromosome is added from its homologous partner, resulting in a set of genes being repeated,
Special features of chromosomes duplication
Only one which can be beneficial
Chromosome mutation definition
A change in the structure of a chromosome. Meaning many genes are altered.
