spec point - mutations in the number of chromosomes can arise spontaenously by chromosome non-disjunction during meiosis
what do gene mutations involve?
a change in the basesequence of chromosomes
when do gene mutations usually occur during?
DNA replication
why do not all mutations cause a change in the sequence of amino acids?
because the genetic code is degenerate
what are mutagenic agents?
can increase the rate of gene mutation
what is a mutation?
a change in the base sequence of DNA within a gene or a quantity of DNA
what are the types of mutagens & their effects?
physical e.g. ionisingrays - breaks DNA strands
chemical e.g. deaminating agents - changes base into another base
biological e.g. viruses - inserts viral DNA into host cell
what are the types of mutations?
insertion - a base sequence is added to the sequence. causes a frameshift
deletion - deletion of a base in the sequence, causes frameshift to the left
substitution - where a base sequence is exchanged for another
inverstion - a base sequence is added, causes frameshift
duplication - where 1 or more bases is inserted in, causes frameshift
translocation - a section of a gene moves from one location to another
what is a silent mutation?
a change in the nucleotidebase sequence that has noeffect
EXAM QUESTION - explain how a mutation leads to a non-functional protein/enzyme
a mutation is a change in the base sequence of DNA
this would lead to a change in the primary structure
this would also lead to change in the tertiary structure which would lead to formation of bonds in different places
resulting in a different tertiary structure
this would also result in a change to the active site (enzyme extra mark)
what is a non-disjunction?
the chromosomes/chromatids do not split equally during anaphase
what is a chromosome mutation?
changes to structure/number of whole chromosomes
what are the 2 forms of chromosome mutations?
polyploidy - changes to wholesets of chromosomes, occurs when organisms have 3 or more sets of chromosomes rather than usual two, occurs mainly in plants
aneuploidy - changes to number of individual chromosomes, on fertilisation with a gamete that has the normal number of chromosomes, the resultant zygote will have more / fewer chromosomes than normal in all their body cells
spec point - meiosis produces daughter cells that are geneticallydifferent from each other
what do 2 nuclear divisions usually result in the formation of in meiosis?
4haploiddaughter cells from a singlediploid parent cell
what are the reasons for increased genetic variation?
independentsegregation
crossing over
mutations
random fertilisation
independent segregation:
meiosis 1, homologous pairs of chromosomes line up opposite each other at the equator of the cell
every pair of chromosomes is random
pairs are separated so 1 of each homologous pair ends up in the daughter cell
creates a large number of possible combinations of chromosomes
when does independent segregation & crossing over occur in meiosis?
meiosis 1
crossing over:
when homologous pairs line up opposite each other at the equator in meiosis 1, parts of the chromatids can become twisted around each other, putting tension on the chromatids, causing the pairs to break
the broken parts of the chromatid recombine with another chromatid, resulting in newcombinations of alleles
meiosis:
2 nuclear divisions
haploid cell
introduces genetic variations
mitosis:
one nuclear division
diploid cell
creates genetically identical cells
what is genetic diversity?
number of differentalleles of genes in a population
what is natural selection?
process that leads to evolution in populations
what is evolution?
the change in allelefrequency over many generations in a population
when can natural selection occur?
if there is a genetic diversity within a population
what does natural selection result in?
species becoming better adapted to their environment & adaptations may be anatomical, physiological or behavioural
EXAM QUESTION - concerning natural selection
new alleles for a gene are created by randommutations
if the new alleles increases the chances of the individual to survive in that environment, then they are more likely to survive & reproduce
this reproduction passes on the advantageous allele to the next generation
as a result, over many generations, the new allele increases in frequency in the population
what are the types of selection?
directional selection
1 of the extremes has the selectiveadvantage
occurs when there's a change in the environment
modal traitchanges
stabilising selection
the modaltraits have the selectiveadvantage
occurs when there's nochange in the environment
modal trait remains the same
standard deviationdecreases, as individuals with the extremetraitdecrease