Molecular Biology and Genetics Flashcards
What is a sex-linked chromosome?
Genes that appear on the sex chromosomes
What are linked genes?
Two genes on the same chromosome
What are some examples of sex-linked traits
Red/green colour blindness
Haemophilia
Define autosomes
Chromosomes that are not sex chromosomes
What is haploid/diploid sex determination?
When an individual with a haploid set of chromosomes is (for example) male and an individual with a diploids set of chromosomes is female
How is sex determined in humans?
the presence of the Y chromosome ensures that an individual is male because it encodes the development of the testis
How do you describe individuals which have two different sex chromosomes (such as males in humans or females in birds)
Heterogametic
How do you describe individuals which have two of the same sex chromosomes (such as females in humans or males in birds)
Homogametic
Define hemizygous
eg. a male is hemizygous
Males can not be homozygous or heterozygous because they only have one X chromosomes which means they cannot have two different alleles for the same trait
If a trait is a sex-linked trait then it appear on the _______ chromosome
X
X-linked DOMINANT alleles will show more in
females
X-linked RECESSIVE alleles will show more in
males
Explain the predicted phenotypes of the two sons and two daughters of parents if the
- mum is a normal homozygous female
- dad is a colour blind male
and colour blindness is a recessive sex-linked trait
- the mother can only produce eggs that have X chromosomes that are normal (eg. n,n)
- the father can produce sperm with either an X chromosome (that will be colour blind - c) and produce a girl, or a Y chromosome and produce a boy
- the daughters of this couple will have two X chromosomes, one from mum and one from dad so will both have the genotype XnXc and be carries
- the sons of this couple will carry the Y chromosome which means they can not inherit the c from their dad so must both have the genotype XnY and be normal
Explain the predicted phenotypes of the two sons and two daughters of parents if the
- mum is a carrier female
- dad is a normal male
and colour blindness is a recessive sex-linked trait
- the mother can produce eggs that have X chromosomes are with normal (n) or colour blind (c)
- the father can produce sperm with either an X chromosome (that will be normal - n) and produce a girl or, a Y chromosome and produce a boy
- the sons of this couple will inherit the Y chromosome from the dad but can inherit the normal (n) X chromosome from mum or the colour blind (c) X chromosome from mum
- half the sons will have the genotype XnY and be normal and half will have the genotype XcY and be colour blind
- the daughters of this couple will inherit the Xc from their dad and either the Xc or Xn from their mum
- half the daughters will have the genotype XnXn and be normal and half the daughters will have the genotype XnXc and be carriers
Linked genes show a bias towards
parental phenotypes
Independent assortment creates new combinations of ________ genes
unlinked
Crossing over creates new combinations of ________ genes
linked
What does Mendel’s 1st Law (Law of Segregation) state?
Genes segregate at meiosis so that each gamete contains only 1 of the two possessed by the parent
What does Mendel’s 2nd Law (Law of Independent Assortment) state?
Alleles of different genes assort independently during gamete formation
Define a population
Localised groups of individuals of the same species
Define the gene pool
total aggregate of genes (and their alleles) in the population at one time
Why might we have to estimate the frequencies of genotypes in a population?
- to predict how many individuals in a population will inherit a genetic disease
- to estimate the proportion of individuals in a population who are carriers of a genetic disease
p + q = ?
where p = ________ and q = ________
1
p = frequency of dominant alleles
q = frequency of recessive alleles
What is the Hardy-Weinberg equation and when would it be used?
p² + 2pq + q² = 1
It would be used to predict the number of genotypes in a population
What do p², 2pq and q² represent in the Hardy-Weinberg equation?
- p² = the proportion of homozygous dominant genotypes there are in the population
- q² = the proportion of homozygous recessive genotypes there are in the population
- 2pq = the proportion of heterozygous dominant genotypes there are in the population
What are 7 ways allele frequencies can change?
- non-random mating
- random genetic drift
- bottleneck effect
- founder effect
- natural selection
- gene flow or migration
- mutation
What are two types of non-random mating?
- assortative mating
- inbreeding
Define assortative mating
Intentionally choosing mates that look identical to you or the complete opposite
Define inbreeding
Breeding between related individuals
Define random genetic drift
A random change in allele frequencies due to sampling error over generations
Define bottleneck
A random event causes a collapse of the population so that only a few individuals survive. This causes a change in allele frequency as some alleles become fixed and some become lost
Define the founder effect
A few individuals leave a population and establish new population in a new location, so there is reduced genetic diversity in new population
What are 5 types of natural selection?
- stabilising selection
- disruptive selection
- directional selection
- sexual selection
- frequency dependent selection
Define stabilising selection and give an example
Extreme variations are selected against and middle range are retained in greater numbers. This reduces variation but does not change the mean.
eg. birth weight in babies
Define directional selection and give an example
When the adaptive phenotype is shifted in one direction and one phenotype is favoured over others. This changes the mean towards one extreme
eg. taller giraffes are favoured or wild mustard evolving to cabbage, cauliflower, Brussel sprouts, kale, broccoli
Define disruptive selection and give an example
Phenotypic extremes are favoured at the expense of intermediate phenotypes. This means two peaks form
eg. beak size in West African black bellied seed crackers
Define sexual selection and give an example
Females are more likely to mate with males with an attractive phenotype
eg. Females like males with long tails therefore long tailed males are more likely to mate so over time we have a population with longer tails
Define frequency dependent selection
Over a long period of time, natural selection maintains an equal proportion of differing phenotypes
eg. left or right mouthed Perissodus microlepis (one year there is a higher frequency of right mouthed individuals but then the fish they feed on stop them from feeding so the next year left mouthed individuals are more common and so on
Define a cline and give an example
The gradual geographic change in genetic/phenotypic composition
eg. more clovers producing cyanide in warmer climates
Describe how a mutation can act within a population
- Mutations occur randomly
- very slow to act
- usually disadvantageous
Define migration
an individual from another population successfully mates (and contributes) to the gene pool
What does migration do to a population?
- brings new alleles
- changes proportions of existing alleles
- changes population size
- makes two populations more similar
What is the role of primase?
It makes RNA primers in the 5 to 3
direction. The RNA primer is the starting point for DNA polymerisation and it provides the 3` OH group
What is the role of DNA polymerase |||?
It is the enzyme that synthesises a new DNA strand by adding complementary nucleotides to the parent strand. DNA polymerase ||| uses the 3 OH group from the RNA primer to start building DNA in the 5
to 3` direction
What is the role of helicase?
It is the enzyme that pulls strands of DNA apart at the origin of replication
Why does helicase pull DNA apart at the origin of replication?
Because the origin of replication is an A/T rich region which means that there are only two H bonds to break instead of three
What is the role of topoisomerase?
It cuts off the DNA and sticks it back together to remove the pressure from it being twisted so hard when helicase pulls the strands apart. The DNA is no longer twisted when it is put back together
What is the role of single stranded DNA binding proteins?
They stop the newly separated DNA from snapping back together.
The cells like to break down single stranded molecules so the SSBP protect the DNA from this happening
What is the role of DNA polymerase |?
It removes the RNA primer and will use the 3` OH groups from the Okazaki fragments next door to fill the gap between the neighbouring Okazaki fragment
What is the role of DNA ligase?
It makes a phosphodiester bond between the 5 phosphate group and the 3
OH group of neighbouring Okazaki fragments
Describe how leading strands are synthesised
- helicase separates the strands of DNA
- single stranded DNA binding proteins hold the strands apart and protect the strands
- Primase builds a primer in the 5
to 3
direction - DNA polymerase ||| extends from the primer by adding nucleotides in the 5’ to 3` direction
Describe how the lagging strand is synthesised
- helicase separates the strands of DNA
- single stranded DNA binding proteins hold the strands apart and protect the strands
- Primase builds a primer in the 5
to 3
direction - DNA polymerase ||| extends from the primer by adding nucleotides in the 5’ to 3` direction
- DNA polymerase | removes the RNA primer and fills the gaps between the Okazaki fragments by building DNA nucleotides from the 3’ OH group of the RNA polymer
- DNA ligase makes a phosphodiester bond between the 5
phosphate group and the 3
OH group of neighbouring Okazaki fragments
When can DNA errors be corrected?
During replication or after replication
DNA errors are fixed during replication by
an exonuclease
DNA errors are fixed after replication by
an endonuclease
How does an exonuclease fix errors in DNA during replication?
DNA polymerase ||| acts as an exonuclease and removes the incorrect base from the 3 end and works towards the 5
end removing the incorrect base. DNA polymerase then adds the correct base
How does an endonuclease fix errors in DNA after replication?
- the endonuclease removes a chunk of bases including the incorrect one
- this takes a chunk out of the strand
- a DNA polymerase adds the correct bases
- DNA ligase forms the phosphodiester bonds between the new bases and the existing ones
What is PCR and why is it important?
Polymerase Chain reaction
to amplify of a specific (target) region of DNA.
Which PCR components are the same as in vivo DNA replication?
DNA template
Primers
DNA polymerase
dNTPs
What is the role of the DNA template in PCR?
It is the DNA molecule to which complementary nucleotides can be matched to make identical copies via DNA synthesis
What is the role of the primers in PCR?
they provide a free 3` OH group to initiate DNA synthesis
What is the role of the DNA polymerase in PCR?
it is the enzyme which adds nucleotides complementary to the DNA template and joins them together forming the phosphodiester bond
What is the role of the dNTPs in PCR?
free nucleotide blocks (equal amounts of A, C, G and T) used by the DNA polymerase
What are the three steps of PCR?
Denaturation
Annealing
Extension
Describe the process of denaturation in PCR
The double stranded DNA is denatured (separated) by briefly heating the sample to 95°C.
Describe the process of annealing in PCR
the sample is cooled to allow annealing (joining) of the primers to the single strands of DNA. The annealing temperature depends on the primer sequence, but is generally between 45-70°C.
Describe the process of extension in PCR
the temperature is increased to 72°C and the DNA polymerase makes the new DNA strand, starting at the primers and adding new nucleotides to match the existing strand in the 5’ to 3’ direction
What is the consequence of errors in DNA replication not being fixed?
The DNA error becomes part of the template, there is a permanent DNA change and mutation
What is a karyotype?
An ordered, visual representation of chromosomes in a cell
What is a locus?
a place or location on a chromosomes where we find a gene
What are the phases of the cell cycle?
Interphase
Mitotic phase