patterns of inheritance Flashcards

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1
Q

What is chlorosis?

A
When the leaves of a plant look pale
or yellow because the cells are not
producing the normal amount of
chlorophyll.
• This lack of chlorophyll reduced
the ability of the plant to make
nutrients by photosynthesis
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2
Q

Describe the plants which

show chlorosis

A

• Most have normal genes coding
for chlorophyll production
• The change in their phenotype is
the result of environmental

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3
Q
Give examples of where both
genetic and environmental
variation play a role in
determining an organism’s
characteristics
A
  • Chlorosis in plants

* Body mass of animals

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4
Q

What environmental factors

can cause chlorosis in plants?

A
Lack of light - e.g. when a
gardening tool is left on a lawn. In
the absence of light, plants turn off
chlorophyll production to conserve
resources
• Mineral deficiencies - e.g lack of
iron or magnesium. Iron is needed
as a cofactor by some enzymes
that make chlorophyll, and
magnesium is found at the heart of
the chlorophyll molecule
• Virus infections - when viruses
infect plants, they interfere with
the metabolism of cells
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5
Q

How can environmental factors

affect animals’ body mass?

A
In the majority of cases, obesity
and being severely underweight
are a result of environmental
factors
• Amount and quality of food eaten
• Quantity of exercise the organism
gets
• Presence of disease
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6
Q

How can genetic factors affect

animals’ body mass?

A

Genetic mutations can cause the
pattern of fat deposition in the body
to be altered

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7
Q

How is genetic variation

created?

A
• For most genes there are many
different possibles alleles or
variants
• Combination is determined by
sexual reproduction involving
meiosis (formation of gametes),
and the random fusion of gametes
at fertilisation
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8
Q

What are modifications?

A
Changes to a person’s phenotype
due to the environment
• Not inherited
• Only mutations (changes to the
DNA) in the gamete can be passed
on to the offspring
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9
Q

What are the 2 different types

of allele?

A
• Dominant allele - the version of the
genes that will always be
expressed if present in an
organisms
• Recessive allele - will only be
expressed 2 copies of this allele
are present in an organism
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10
Q

What are the 2 different types

of genotype?

A
• Homozygous - they have 2
identical alleles for a
characteristic. Either homozygous
dominant, or homozygous
recessive
• Heterozygous - the have 2
different alleles fora characteristic.
The allele for the dominant
phenotype will be expressed
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11
Q

Compare continuous and

discontinuous variation

A
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12
Q

What are the steps in drawing

a genetic cross diagram?

A
1. State the phenotype of both
parents
2. State the genotype of both
parents. Capital letter for
dominant allele, and
corresponding lowercase letter
for recessive allele
3. State the gametes of each
parent. Common practice is to
circle the letters
4. Use a Punnett square to show
the results of random fusion of
gametes during fertilisation
5. State the proportion of each
genotype which are produced
among the offspring
6. State the corresponding
phenotype for each of the
possible genotypes
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13
Q

What is codominance?

A
Codominance occurs when two
different alleles occur for a gene -
both of which are equally dominant
• As a result both alleles of the
alleles are expressed in the
phenotype of the organism if
present
• e.g. Red and White allele make
Pink flower
• CR = red, CW = white
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14
Q

Give an example of a
characteristic that is
determined by a gene with
multiple alleles?

A
Blood group
• The immunoglobulin gene (Gene I)
coders for the production of
different antigens present on the
surface of red blood cells
• IA = antigen A
• IB = antigen B
• IO = antigen O
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15
Q

Describe the alleles involved in

determining blood group

A
IA and IB are codominant, whereas IO
is recessive to both of the other
alleles. This leads to 4 blood groups:
• Blood group A = IAIA or IAIO
• Blood group B = IBIB or IBIO
• Blood group AB = IAIB
• Blood group O = IOIO
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16
Q

How is sex determined?

A
• The 23rd pair of chromosomes in
humans are sex chromosomes
• Female = XX
• Male = XY
• X-chromosome is large and
contains many genes not involved
in sexual development
• Y-chromosomes is very small
containing almost no genetic
information, but does carry a
genes that causes the embryo to
develop as a male
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17
Q

What are sex linked

characteristics?

A
Characteristics determined by genes
carried on the sex chromosomes
• Y-chromosomes is much smaller,
so there are many genes in the Xchromosome
that males have 1
copy of
• Any characteristic caused by a
recessive allele on the section of
the X-chromosome which is
missing in the Y-chromosome
occurs more frequently in males
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18
Q

What is haemophilia?

A
Sex-linked genetic disorder
• Blood clots extremely slowly due
to the absence of a protein bloodclotting
factor (usually factor VIII)
• If a male inherits the recessive
allele that codes for haemophilia,
they cannot have a corresponding
dominant allele on their Y
chromosome, so they develop the
condition
• Females who are heterozygous for
the haemophilia coding gene are
known as carriers
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19
Q

What is dihybrid inheritance?

A

The inheritance of two genes

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20
Q

What is the ratio for dihybrid
crosses with heterozygous
parents?

A

9 : 3 : 3 : 1

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21
Q

What can the actual ratio differ

from the expected ratio?

A
• The fertilisation of gametes is a
random process so in a small
sample a few chance events can
lead to a skewed ratio
• The genes being studied are both
on the same chromosome. These
are known as linked genes. If no
crossing over occurs, the alleles
for the two characteristics will
always be inherited together
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22
Q

What is autosomal linkage?

A

• When the genes that are linked are
found one of the other pairs of
chromosomes

23
Q

Describe linked genes

A
• Inherited as one unit
• No independent assortment during
meiosis unless the alleles are
separated by chiasmata
• Tend to be inherited together
• Cannot undergo normal allele
‘shuffling’ in meiosis
• Expected ratios will not be
produced in the offspring
24
Q

What are recombinant

offspring?

A
They have different combinations of
alleles than either parent
• The closer the genes are on a
chromosome, the less likely they
are to be separated during
crossing over, and the fewer
recombinant offspring produced
25
Q

What is the recombination

frequency?

A

Number of recombinant offspring
______________________________
Total number of offspring

26
Q

What do different
recombination frequencies
indicated?

A
• 50% indicates there is no linkage
and the genes are on separate
chromosomes
• Less than 50% indicates that there
is gene linkage and the random
process of independent
assortment has been hindered
• Recombination frequency of 1%
relates to a distance of one map
up on a chromosome
27
Q

How does crossing over affect

recombination frequency?

A
As the degree of crossing over
reduces, the recombination
frequency also gets smaller
• Degree of crossing over is
determined by how close the
genes are on a chromosome
• The closer they are, less likely they
will be separated during crossing
over
28
Q

What is the chi-squared test?

A
A statistical test the measures the
size of the difference between the
results you actually get (observe),
and those you expected to get
• Helps determine whether the
differences in the expected and
observed results are significant or
not
• Null hypothesis: there is no
significant difference between
what we expect and what we
observe
29
Q

What is the chi-squared test

formula?

A
30
Q

What do large chi-squared

values mean?

A
There is a significant difference
between the observed and expected
results
• The probability that these
differences are due to chance is
low
31
Q

How does the number of
categories being compared
affect the size of the chisquared
value?

A
• The degrees of freedom is the
number of values being made, and
is calculated as n-1
• n is the number of categories or
possible outcomes present in the
analysis
• e.g. if looking a yellow and green
peas, there would be 2 categories,
and so one degree of freedom
32
Q
• The degrees of freedom is the
number of values being made, and
is calculated as n-1
• n is the number of categories or
possible outcomes present in the
analysis
• e.g. if looking a yellow and green
peas, there would be 2 categories,
and so one degree of freedom
A
If the value is less than the critical
value, there is no significant
difference. Reject null hypothesis
• If the value is greater than or equal
to the critical value, there is a
significant difference. Accept null
hypothesis
33
Q

What is epistasis?

A
The interaction of genes at different
loci
• Gene regulation is a form of
epistasis with regulatory genes
controlling the activity of structural
genes e.g. the lac operon
• The characteristics of plants and
animals that show continuous
variation involve multiple genes,
and epistasis occurs frequently
34
Q

What is dominant and

recessive epistasis?

A
• Recessive epistasis occurs if the
presence of two recessive alleles
at a gene locus led to the lack of
an enzyme
• Dominant epistasis occurs if a
dominant allele results in a gene
having on another gene
35
Q

List the factors affecting

evolution

A
Mutation causes the existence of
different alleles, and the formation
of new alleles leads to genetic
variation
• Sexual selection leads to alleles
coding for characteristics which
improve mating success
increasing in frequency
• Gene flow - the movement of
alleles between populations.
Immigration and emigration result
in changes of allele frequency
within a population
• Genetic drift - change in allele
frequency due to the random
nature of mutation. Occurs in small
populations. The appearance of a
new allele will have a greater
impact (is more likely to increase in
number) in a smaller population
than in a much larger population
• Natural selection
36
Q

What are the 2 types of limiting
factors for the size of a
population?

A
Density-dependent factors
• Dependent on populaation size
• e.g. competition, predation,
parasitism and communicable
disease
Density-independent factors
• Affect population of all sizes in the
same way
• e.g. climate change, natural
disasters, seasonal change and
human activities
37
Q

What are genetic bottlenecks?

A

Large reductions in population size
which last for at least one generation
• Gene pool and genetic diversity is
greatly reduced

38
Q

What is the founder effect?

A
An extreme example of genetic drift
• Small populations can arise due to
the establishment of new colonies
by a few isolated individuals
• These small populations have
much smaller gene pools than the
original population and display
less genetic variation
• If carried to the new population,
the frequency of any alleles that
were rare in the original population
will be much high in the new,
smaller population and so will
have a much larger impact during
natural selection
39
Q

What happens in stabilising

selection?

A
• The average is selected for
(positive selection), and the
extremes are selected against
(negative selection)
• Results in a reduction in the
frequency of alleles at the
extremes, and an increase in the
frequency of average alleles
• e.g. natural selection in baby
weight
40
Q

What is directional selection?

A
When there is a change in the
environment and the normal (most
common) phenotype is no longer the
most advantageous
• Organisms which are less common
and have more extreme
phenotypes are positively selected
• The allele frequency then shifts
towards the extreme phenotypes
and evolution occurs
• e.g. peppered moths during the
industrial revolution
41
Q

What is disruptive selection?

A
When the extremes are selected for
and the norm is selected against
• The opposite to stabilising
selection when the norm is
positively selected
• e.g. feather colour in lazuli bunting
birds
42
Q

What is speciation?

A
The formation of new species
through the process of evolution
• The organisms belonging to the
new species will no longer be able
to interbreed to produce fertile
offspring with organisms belonging
to the original species
43
Q

What are the events that lead

to speciation?

A
• Members of a population become
isolated and no longer interbreed
with the rest of the population
resulting in no gene flow between
the 2 groups
• Alleles within the group continue
to undergo random mutations. The
environment of each group may be
different, resulting in different
selection pressures, so different
characteristics will be selected for
and against
• The mutations and changes in
allele frequencies over many
generations will eventually lead to
large changes in phenotype. The
members of the different
population become so different
that they are no longer able to
interbreed
44
Q

What is allopatric speciation?

A
When some members of a
population are separated from the
rest of the group by a physical
barrier e.g. a river or the sea
• More common form of speciation
• Geographically isolated
• Environments will be different and
so there will be different selection
pressure resulting in different
physical adaptations
• Separation of a small group will
often result in the founder effect
leading the genetic drift
• E.g. the finches of the Galapagos
Islands
45
Q

What is sympatric speciation?

A
Occurs when members of two
different species interbreed and
form fertile offspring. The hybrid
formed (which is a new species) will
have a different number of
chromosomes to either parent and
may longer be able to interbreed
with members of either parent
population. This stops gene flow
and reproductively isolates the
hybrid organism
• Happens less frequently than
allopatric speciation
• Occurs within populations that
share the same habitat
• More common in plants than
animals
• E.g. fungus-farming ants and blind
mole rats
46
Q

What are reproductive

barriers?

A
Prezygotic reproductive barriers
prevent fertilisation and the
formation of a zygote
• Postzygotic reproductive barriers,
often produced as a result of
hybridisation, reduce the viability
or reproductive potential of
offspring
47
Q

What does polymorphic mean?

A
Displaying more than one phenotype
for a characteristic
• The allele coding for the most
common, or normal, characteristic
is called the wild type allele
• Other forms of that allele, resulting
from mutations, are called mutants
48
Q

What is artificial selection

(selective breeding)?

A
The same as natural selection,
except for the nature of the selection
pressure applied
• Instead of changes in the
environment leading to survival of
the fittest, it is the selection for for
breeding of plants or animals with
desirable characteristics by
farmers or breeder
49
Q

Describe the process of

artificial selection

A
1. Individuals with the desired
characteristics are selected and
interbred
2. Offspring from this cross
showing the best examples of
the desired traits are then
selected to breed
3. The breeding of closely related
individuals is called inbreeding
4. The process is repeated over
many generation resulting in
changes to the frequency of
alleles within the population, and
eventually speciation
50
Q

What are the problems called

by inbreeding?

A
Limits the gene pool and so
decreases genetic diversity which
reduces the chance of the
population evolving and adapting
to changes in their environment
• Many genetic disorders are
caused by recessive alleles -
organisms that are closely related
are genetically similar and likely to
have the same recessive alleles
51
Q

What do seed banks do?

A
The store samples of seeds from
both wild type and domesticated
varieties
• They are an important genetic
resource
52
Q

What do gene banks do?

A

They store biological samples, other
than seeds, such as sperm or eggs.
They are usually frozen

53
Q

How are the problems of

inbreeding tackled?

A
Alleles from gene banks are used
to increase genetic diversity in a
process called outbreeding
• Breeding unrelated or distantly
related varieties is also a form of
outbreeding
• This reduces the occurrence of
homozygous recessives, and
increases the potential to be able
to adapt to environmental change
in the future