Mutations Flashcards
gene pool
Gene pool is the sum of all alleles possessed by an entire population at any one time
Within this gene pool,
how are allele freuqncies calcualted
the allele frequencies of ‘A’ and ‘a’ and be determined:
(𝑁𝑜. 𝐷𝑜𝑚𝑖𝑛𝑎𝑛𝑡 𝑎𝑙𝑙𝑒𝑙𝑒𝑠 (𝐴))/(𝑡𝑜𝑡𝑎𝑙 𝑎𝑙𝑙𝑒𝑙𝑒𝑠) 𝑋 100
(𝑁𝑜. 𝑟𝑒𝑐𝑒𝑠𝑠𝑖𝑣𝑒 𝑎𝑙𝑙𝑒𝑙𝑒𝑠 (𝑎))/(𝑡𝑜𝑡𝑎𝑙 𝑎𝑙𝑙𝑒𝑙𝑒𝑠) 𝑋 100
increased genetic diversity.
is achieved hwo
The larger and more diverse gene pool will contain a greater variety of gene and alleles, resulting in increased genetic diversity.
What is a mutation?
A mutation is a permanent change in the DNA sequence.
What is an advantageous mutation?
An advantageous mutation provides a selective advantage over other phenotypes, helping an organism survive and reproduce.
hat is a neutral mutation?
A neutral mutation has no effect on the amino acid sequence and is often referred to as a silent mutation.
What is a deleterious mutation?
A deleterious mutation can cause disease or reduce an organism’s fitness.
What are some common causes of mutations?
Mutations can be caused by mutagens such as UV rays, X-rays, chemicals, or occur spontaneously.
How are mutations inherited?
For mutations to be inherited, they must occur in germline cells (sperm or egg cells).
The effect of mutations on allele frequencies
Mutations introduce new alleles to a gene pool
Passing this down to offspring will increase the allele frequency and overtime may replace another allele if it is beneficial.
types of mutatin=ons
point mutaitons
frameshift mutations
silent mutations
Point mutations
Changes to one nucleotide in a gene due to substitution. Can be classified as:
silent, missense, nonseense
Silent vs missense vs nonsense mutation
Silent mutation is where one nucloetide is substituted for another, the gene still codes for the same amino acid sequence, this is dueto the degeneracy of the geneitc code and has no effect on the protein produced
Missense mutation is were one nucletoide is substituted foranother, resulitng in a differnet seuquecne of amino acids. A differnet protein is produced
Nonnesnse mutation:
one nucleotide is susbitied for anotherto a nucleotide that results prematurely ending translation due to a codon becoming the STOP codon. Protein is shorter than the regular protein. and protein is not functional
Frameshift mutations what is it and examples
Involves the addition or deletion of one or two nucleotides. This results in a ‘shift’ in how the DNA strand is read,Amino acid sequence changes which also results in a change in protein.
Cystic fibrosis, Crohn’s disease and certain types of cancers are due to frameshift mutations
explain the types of frameshfit mutation, framshefit insertion and deletion
Frameshift mutation (insertion)
Addition of one or two nucleotides which alter the reading frame of the following nucleotides.
Frameshift mutation (deletion)
Deletion of one or two nucleotides which alter the reading frame of the following nucleotides.
Block mutations
Involve the altering the structure of a chromosome by inserting, deleting or swapping a cluster of nucleotides during meiosis.
Can impact multiple genes
Chromosomal abnormalities -
Aneuploidy and polyploidy
aneuploidy wat is and examples
AneuploidyAneuploidy occurs when an individual has an extra chromosome or one missing in their karyotype.
Aneuploidy occurs when an individual has an extra chromosome or one missing in their karyotype.
Polyploidy
Occurs when an individual has more than two sets of chromosomes
In humans, zygote is unable to survive
In plants, can result in an altered phenotype
allele what is it
pair of genes that occupy a specific location on a particular chromosome and control the same trait
mutagen
Anything that can cause a mutation
tNatural Selection
A mechanism for evolution in which the individuals best adapted to the selection pressures in their environment survive and pass on their alleles to their offspring.
types of block mutations and explain
deletion bock mutaiton: Deletion is the loss of a segment of DNA from a chromosome, which can result in the loss of genetic information and potential loss of function.
duplication in block mutations?plication involves the copying of a segment of DNA, resulting in multiple copies of a particular gene or genes, which can lead to overexpression.
inversion in block mutations?
nversion occurs when a segment of DNA is reversed within a chromosome, which can affect gene expression and function.
What is translocation in block mutations:
Translocation is the movement of a segment of DNA from one chromosome to another non-homologous chromosome, which can disrupt gene function and regulation.
What does it mean when a phenotype has a higher fitness value and is “at a selective advantage”?
A phenotype with a higher fitness value contributes more to the gene pool in the next generation, meaning it is more likely to survive and reproduce. This selective advantage allows favorable genes to be passed on to future generations.
What happens to a phenotype with a lower fitness value in terms of natural selection?
A phenotype with a lower fitness value makes a lesser contribution to the gene pool in the next generation and is said to be “selected against,” meaning it is less likely to survive and reproduce, leading to a decrease in its frequency over time.
The four conditions of Natural Selection
There is variation (physical, biochemical, behavioural) in phenotypes be speciifc variation in phenotype of the giraffes height eg.
A selection pressure exists that causes a struggle for survival in some individuals.
Organisms with a favourable phenotype will be selected for and have a selective advantage that helps them overcome the selection pressure.
The unfavoured phenotype is selected against and their numbers are reduced in the gene pool.
Those with the favourable phenotype pass their alleles to their offspring and inherit these traits. The frequency of the favourable allele increases.
Natural Selection in peppered moths
1.There is variation in phenotypes within a population Light and dark coloured moths
2.A selection pressure exists (predation from birds) that causes a struggle for survival in some individuals.
3.Organisms with a favourable phenotype (dark moths in dark environments) will be selected for and have an advantageous phonotype that helps them overcome the selection pressure.
4,The unfavoured phenotype (light coloured moths in dark environment) is selected against and their numbers are reduced in the gene pool.
5,Those with the favourable phenotype pass their alleles to their offspring. The frequency of the favourable allele increases.