B9 Flashcards
(56 cards)
mutation
any change in the quantity or the base sequence of the DNA of an organism
gene mutation
any change to one or more nucleotide bases, or a change in the sequence of bases
substitution of bases
–> why its harmful
type of gene mutation where a nucleotide in a DNA molecule is replaced by another nucleotide with a different base
- if this change in base sequence changes the amino acid coded for, the polypeptide will be different
- the significance of this difference will depend on the role of the original amino acid
- if it is important in forming bonds that determine the tertiary structure of the final protein, the substituted amino acid may not form the same bonds
e.g. an enzyme may have different shape active sires, no longer complementary to substrate, no enzyme-substrate complexes formed, so cannot catalyse reaction
deletion of bases
when a nucleotide is lost from the normal DNA sequence
- usually the amino acid sequence of the polypeptide is entirely different and so the polypeptide cannot function
- this is because the sequence of bases in DNA is read in units of triplets
- one deleted nucleotide causes all triplets in a sequence to be read differently , because each has been shifted to the left by one base
chromosome mutations
–> forms
changes to the structure or number of whole chromosomes
- changes in whole sets of chromosomes
- when organisms have 3 or more sets of chromosomes rather than the usual 2
–> POLYPLOIDY - changes in the number of individual chromosomes
- sometime individual homologous pairs of chromosomes fail to separate during meiosis
–> NON DISJUNCTION - results in a gamete having either one more or one fewer chromosomes - on fertilisation with a gamete that has the normal amount of chromosomes, the resultant offspring have more or fewer chromosomes in all their body cells
hybridisation
combining the genes of different variations or species of organisms to produce a hybrid
sometimes this is followed by organisms that have additional complete sets of chromosomes
how can polyploidy arise
- chromosomes do not separate into two distinct sets during meiosis
- gametes could them be produced that have both sets i.e. they are diploid rather than haploid
- if these fused with one another, the offspring could have four sets of chromosomes- tetraploid
- diploid + haploid = triploid - hybrids can be formed by combining sets of chromosomes from two different species
when are hybrids not sterile
- if the hybrid has a chromosome number that is a multiple of the original chromosome number, a new fertile species cam rise because chromosomes have homologous partners so meiosis is possible
how does cell division occur (2 ways)
- mitosis: produces two daughter cells with the same number of chromosomes as the parent cell and each other
- meiosis: usually produces 4 daughter cells, each with half the number of chromosomes as the parent cell
what is the haploid number
- during meiosis, homologous pairs separate so that only one chromosome from each pair enters a daughter cell
–> in humans the haploid number = 23
the process of meiosis
- involves 2 nuclear divisions that normally occur one after another
- meiosis 1
- homologous chromosomes pair up and their chromatids wrap around each other
- equivalent portions of these chromatids may be exchanged by CROSSING OVER
- by the end of this division, the homologous pairs have separated, with one chromosome from each pair going into one of the two daughter cells - meiosis 2
in the second mitotic division, the chromatids move apart
- at the end of meiosis 2, four cells have been formed
- in humans, each contain 23 chromosomes
how does meiosis bring about genetic variation
- independent segregation of homologous chromosomes
- new combinations of maternal and paternal alleles by crossing over
gene
a length of DNA that codes for a polypeptide and functional RNA
locus
a position of a gene on a chromosome/ DNA molecule
allele
one of the different forms of a particular gene
homologous chromosomes
a pair of chromosomes, one maternal/ paternal, that have the same gene loci
independent segregation of homologous chromosomes
- during meiosis 1, each chromosome lines up alongside its homologous partner
- in humans, 23 homologous pairs lying side by side
- the arrangement of these homologous chromosomes = RANDOM
- one of each pair will pass to each daughter cell
- which one of each pair goes into the daughter cell, and which one of any other pairs, depends on how the pairs are lined up in the parent cell.
- since the pairs are lined up at random, the combination of chromosomes of maternal and paternal origin that go into the daughter cells at meiosis 1 is also a matter of chance.
variation from new genetic combinations
- each member of a homologous pair of chromosomes has exactly the same genes and therefore determines the same characteristics
- however, the alleles of these genes may differ
- the INDEPENDENT ASSORTMENT of these chromosomes therefore produces new genetic combinations,
genetic recombination by crossing over
- during meiosis 1, each chromosome lines up alongside its homologous partner
- the chromatids of each chromosome become twisted around each other
- during this twisting process, tensions are created and portions of the chromatids break off
- these broken portions rejoin with the chromatids of the homologous partner
- in this way, new genetic combinations of maternal and paternal alleles are produced
- chromatids = produced with a different combination of alleles between non-sister chromatids
—> chiasma/ chiasmata form
possible chromosome combinations following meiosis
- homologous pairs of chromosomes line up at the equator of a cell during meiosis 1
- either one of a pair can pass into each daughter cell - INDEPENDENT SEGREGATION
- number of possible combinations for each daughter cell = 2^n
- variety is further increased through the random pairing of male and female gametes
- where the gametes come from different parents, two different genetic complements with different alleles are combined –> more variety.
(2^n)^2 - these calculations are based on chromosomes staying intact throughout meiosis
- crossing over between chromatids during meiosis 1 exchanges sections of chromosomes between homologous pairs in recombination
organisms of the same species differ in …
the combination of their alleles, not their genes
genetic diversity
a measurement of variation in a population. the total number of different alleles for each gene present in a population
population
a groups of individuals of the same species that live in the same place and can interbreed,
how does genetic diversity enable natural selection
- the greater number of different alleles that all members of a species possesses i.e. the greater genetic diversity
–> the more likely that some individuals in a population will survive an environmental change - this is because of a wider range of alleles and therefore a wider range of characteristics
- this gives a greater probability that some individuals will possess a characteristic that suits it to the new environmental conditions