Chapter 19 Genetics Of Living Systems Flashcards
What is a mutation?
A change in the amount or the structure of DNA in an organism where the genotype changes.
What is a gene mutation?
A change in the nucleotide (base pair) sequence of single genes or small sections of DNA
What is a chromosome mutation?
A change in several genes that can affect portions
of a chromosome or numbers of chromosomes in a cell.
What is a gene point mutation?
A mutation that happens to one base
What causes mutations in genes?
The change in the sequence of bases can be caused by:
Substitution
Deletion
Insertion
What is substitution in gene mutation?
Changes a base in the codon sequence
What is the affect of substitution?
If the new codon codes for a different amino acid then this will change the primary structure of the protein.
However, due to the degenerative nature of the genetic code this means that the new codon could still code for the same amino acid and therefore have no effect on the sequence or the protein synthesised.
What is insertion in gene mutation?
A base is added to the sequence
What is deletion in gene mutation?
A base is removed from the sequence
What is the affect of insertion and deletion?
Insertion and deletion can cause frameshift mutation where the mutation changes the reading frame of the codon. This alters every successive codon from the point of mutation.
This changes the amino acid which is coded for and therefore the protein synthesised.
When does insertion or deletion have no effect on the reading frame of the codon?
When the number of bases changed are multiples of three as they correspond to full codons and the reading frame does not shift.
However, the protein synthesised will still be altered as the amino acids have changed.
What are the effects of mutations?
-No effect on the phenotype of an organism
-Damaging- the phenotype is affected negatively as proteins are no longer synthesised or proteins are non-functional.
-Beneficial- a different protein structure is synthesised which is advantageous to the phenotype
What is an example of a neutral mutation?
Dimples
Free/ attached ear lobes
What is an example of a damaging mutation?
Cystic fibrosis
Sickle cell anaemia
Colour blindness
What is an example of a beneficial mutation?
Lactose persistence
HIV resistance
Bacterial antibiotic resistance
What are Mutagens?
A chemical, physical or biological agent which increases the risk of mutation rates.
What are causes of mutation?
-Mutagens
-The loss of a purine or pyrimidine base during DNA replication can result in the replacement of the incorrect base
-Free radicals can affect the structures of nucleotides and disrupt base pairing during DNA replication
What is an example of a physical mutagens?
Ionising radiation
Can break DNA strands leading to mutations during repair
What is an example of a Chemical mutagen?
Deaminating agents- chemically altering bases in the DNA
What is an example of a biological mutagen?
-Viruses - viral DNA may insert itself into the genome changing the base sequence
-Base analogs - are incorporated into DNA in place of the usual base during replication
-Alkylating agents - methyl to ethyl groups are attached to bases resulting in the incorrect pairing of bases
How are mutations formed in chromosomes?
Deletion
Translocation
Inversion
Duplication
What is Deletion in chromosome mutation?
A section of the chromosome is lost
What is duplication in chromosome mutation?
A section of a chromosome is duplicated
What is translocation in chromosome mutation?
A section of the chromosome breaks off and joins another non-homologous chromosome
What is inversion in chromosome mutation?
A section of a chromosome breaks off, is reversed and then joins back onto the chromosome.
When does chromosome mutation occur?
Meiosis, during crossing over in Prophase I
What are the impacts of chromosome mutations?
Addition or loss of chromosomes can lead to gametes with too few or too many chromosomes.
Therefore, this can lead to developmental problems within the zygotes that survive.
What is gene regulation?
Controls what genes are switched on or off and the rate of synthesis of proteins.
What is the function of regulatory mechanisms?
Control which genes are expressed at different points in time to ensure that the correct gene is expressed in the correct cell at the right time.
What are the different regulatory mechanisms?
Transcriptional
Post-transcriptional
Translational
Post -translational
What is gene regulation used for in multicellular organisms?
Gene regulation is used by multicellular organisms in order for their cells to specialise and work together in co-ordination.
What does the transcriptional mechanism control?
Switching genes on or off to control whether transcription occurs or not .
What does the post-transcriptional mechanism control?
Modifying mRNA to regulate translation and the types of protein produced
What does the translational mechanism control?
Stopping or starting translation
What does the post-translational mechanism control?
Controls the modification of proteins after synthesis which changes their function
What are the similarities in the gene expression of eukaryotes and prokaryotes?
Both respond to stimuli by changing gene expression
Both change product synthesis rates according to demand
What are the differences in the gene expression between prokaryotes and eukaryotes?
Prokaryotes
Responses produced are simple
Only respond to changes in the external environment
Eukaryotes
Responses produced are complex
Respond to changes in the internal and external environment