Patterns of Inheritance Flashcards

1
Q

Causes of phenotype variation

A

The appearance of a living organism (phenotype) is influenced both by its genotype (genetic makeup) and environment

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2
Q

What is a mutation

A

Change in the genetic material
-Structure of DNA
-Change to structure/ gross number of chromosomes

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3
Q

What is a mutagen

A

Certain physical/ chemical agents that cause mutations

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4
Q

Physical mutagen agents e.g.

A

-X-rays
-Gamma rays
-UV light

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5
Q

Chemical mutagen agents e.g.

A

-Benzopyrene (in tobacco smoke)
-Mustard gas
- Nitrous acid

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6
Q

Biological mutagen agents e.g.

A
  • Some viruses
    -Transposons - jumping genes, remnants of viral nucleic acid that have become incorporated into our genome
    -Food contaminants i.e. mycotoxins from fungi
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7
Q

Mutations that occur during gamete formation

A

Can be advantageous/ neutral/ harmful
-Persistent: Can be transmitted through many generations without change
-Random: Not directed by a need on the part of the organism in which they occur

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8
Q

When do chromosome mutations occur

A

Meiosis

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9
Q

Types of chromosome mutations

A

-Deletion
-Inversion
-Translocation
-Duplication
-Non-disjunction

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10
Q

Deletion (Chromosome mutation)

A

Part of a chromosome (containing genes and regulatory sequences) is lost

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11
Q

Inversion (Chromosome mutation)

A

Section of the chromosome may break off and turn 180 degrees and then join again

=Although all genes are still present, some may now be too far away from their regulatory nucleotide sequence to be expressed

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12
Q

Translocation (Chromosome mutation)

A

A piece of one chromosome breaks off and attaches to another chromosome
-May also interfere with the regulation of genes on the translocated chromosome

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13
Q

Duplication (Chromosome mutation)

A

A piece of the chromosome may be duplicated
-Overexpression of genes can be harmful, as too many of certain proteins/ gene regulating nucleic acids, may disrupt metabolism

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14
Q

Non-disjunction (Chromosome mutation)

A

One pair of chromosomes/chromatids fails to separate, leaving one gamete with an extra chromosome

=When fertilized by a normal haploid gamete, the resulting zygote has one extra chromosome

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15
Q

What diseases are caused by Non-disjunction

A

Down syndrome / trisomy 21

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16
Q

Two types of Non-disjunction

A

-Aneuploidy
-Polyploidy

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17
Q

Aneuploidy

A

The chromosome number is not an exact number of the haploid number for that organism
-Sometimes chromosomes/chromatids fails to separate during meiosis

All in pairs but one set has an extra chromosome i.e. chromosome 21 has an extra chromosome which results in the disease trisomy

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18
Q

Polyploidy

A

Polyploidy- more than two copies of chromosomes

Diploid - meiosis error = instead of producing haploid egg and sperm it produces diploid egg and sperm
2n+ 2n = tetraploid plant

When diploid+ tetraploid fertilise
n+ 2n = 3n it will produce a triploid plant (non-viable and infertile)

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19
Q

Species

A

Interbreed; produce fertile offspring

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20
Q

How does sexual reproduction increase genetic variation

A
  • Allele shuffling: P1
    -Independent assortment: M1+A1/M2/A2

-Ransom fusing of gametes

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21
Q

Environmental factors that cause variation

A

-Speaking with a particular regional dialect
-A scar

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22
Q

Genetic factors that cause variation

A

-Blood group
-Tongue rolling

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23
Q

Genetic and Environmental factors that cause variation

A

-Skin colour
-Intelligence
-Sporting mass
-Body mass
-Height

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24
Q

How is variation caused by the environment interacting with genes

A

If plants are kept in dim light after germination/ soil contains insufficient nutrients then leaves do not develop enough chlorophyll
-Plant described as chlorotic + cannot photosynthesise

=Chlorotic plants have the genotype to make chlorophyll but environmental factors prevent them from expressing this gene

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25
Q

Dominant/ Recessive

A

Dominant: D
Recessive: d

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26
Q

Pure breeding

A

BB/ bb not Bb

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27
Q

TT
tt
Tt

A

Homozygous dominant
Homozygous recessive
Heterozygous

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28
Q

F1 generation

A

Parent phenotypes: Tall Short
Parent genotypes: TT tt
Gametes: T t
T
t = Tt

so F1 generation 100% chance of being tall

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29
Q

F2 generation

A

Parent phenotypes: Tall Short
Parent genotypes: Tt Tt
Gametes: T or t T or t
T t
T TT Tt
t Tt tt 3: 1 ratio and 75% chance of being tall

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30
Q

Monogenic

A

Determined by a single gene

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31
Q

The test cross

A

When you want to find the tall plants original genotype is tall/ short you need to cross-breed it with a plant with the recessive gene (the small plant)

Tall Plant = TT Tt
Short plant = tt

 T                       T     t   t   Tt                   t  Tt  tt 

all tall 50% chance

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32
Q

Co-dominance

A

Where both alleles present in the genotype of a heterozygous individual are being expressed

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33
Q

Cow coat colour e.g. of co-dominance

A

C(R) - red cows
C(W) - white cows

Red White
C(R) C(R) C(W) C(W)

           C(R)    C(W)    C(R) C(W)    = F1 generation
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34
Q

Cow coat colour e.g. of co-dominance (F2 generation)

A

Roan Roan
C(R) C(W) C(R) C(W)

       C(R)  C(W)   C(R)   C(W)
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35
Q

Multiple alleles

A

Characteristic where there are three or more alleles in the population gene pool

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36
Q

Multiple alleles - human blood

A

3 Blood groups: A;B;O
- A/B dominant over O

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37
Q

Multiple alleles - human blood combinationS

A

I(B) I(B) = B
I(O) I(O) = O
I (A) I(B) = AB
I(B) I(O) = B

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38
Q

Multiple alleles - human blood e.g.

A

Female Male
I(B) I(O) I(A) I(O)

            I(B) I(O)                    I(A)  I(O)
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39
Q

Sex- linkage

A

Gene present on (one of) the sex hormones

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40
Q

Autosomes

A

The first 22 chromosomes
-Fully homologous
-Match for length and contain the same genes at the same loci

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41
Q

23rd chromosome onwards

A

Sex chromosomes
Female: XX
Males: XY

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42
Q

Male 23rd chromosome

A

Not fully homologous but a small part of one matches a small part of the other so that the chromosomes can pair before meiosis

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43
Q

Why do males often suffer from genetic diseases via sex hormones and females do not

A

If a female has an abnormal allele on her X chromosome she probably has a functioning gene on the other X chromosome

If a male inherits from his mother the X chromosome with the abnormality he will suffer from a genetic disease as he won’t have another functioning allele for that gene

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44
Q

Men and X linked genes

A

Haploid/ hemizygous

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45
Q

Haemophilia A

A

Unable to clot blood fast enough; injuries may cause an internal haemorrhage

  • on the h = recessive allele
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46
Q

How is Haemophilia A caused

A

Female (carrier) Male
X(H) X(h) X(H) Y

                X(H)            X(h)                     

X(H) X(H) X(H) X(H) X(h)

Y X(H) Y X(h) y

47
Q

Why can males not pass sex-linked diseases to their sons

A

Gene for the X-linked disease is nearly always on the X -chromosome and males pass their copy of the X chromosome to their daughters and pass their Y chromosomes to their sons

48
Q

Can haemophilia males pass the disease to their grandsons

A

Yes. The X with the mutated allele that they pass to their daughters could then pass to their daughters sons

49
Q

Female Haemophiliacs

A

Very rare and fatal
Genotype: x(h) x(h)
Phenotype: X(H) X(h) - mum
x(h) y - dad

50
Q

Sex linkage in cats

A

C(O) = Orange
C(B) = Black

if it was X(CO) X (CB) = Tortoiseshell
-mainly only females as need 2x X chromosomes

51
Q

How do females have the same amount of X-linked genes expressed as men and not 2x as many

A

In every female nucleus, one X chromosome is inactivated
-Determination of which pair will become inactivated is random and happens during early embryonic development

52
Q

Dihybrid Inheritance

A

The different genes are inherited independently of each other. They are on different chromosomes

53
Q

Dihybrid Inheritance e.g.

A

Yellow-rounded Green-wrinkled
YYRR yyrr
YR yr

YyRr = Yellow-rounded

54
Q

Dihybrid Inheritance - what to remember about the pairing

A

Always pair the letters together
Yy Rr

55
Q

What can you deduce from the results of dihybrid crosses

A

-The alleles of the two genes are inherited independently of each other, so each gamete has one allele for each gene locus
-During fertilisation, any one of an allele pair can combine with any other allele pair

56
Q

Autosomal linkage

A

Gene loci present on the same autosome (non sex chromosomes) that are often inherited together

57
Q

If linked genes are not affected by crossing over of non-sister chromatids in P1of meiosis

A

They are always inherited as one unit

58
Q

Recombinant genes

A

Chromosomes affected by crossing over

59
Q

What is epistasis

A

When one gene masks or suppresses the expression of another gene

60
Q

How does epistasis reduce genetic variation

A

Reduces number of crosses in F2 generation

61
Q

Recessive epistasis

A

The homozygous presence of a recessive allele at the first locus prevents the expression of another allele at another locus

First locus = epistatic to those at the second locus
Second locus = hypostatic to those at the first locus

62
Q

Dominant epistasis

A

Dominant allele at the first locus masks anything at the second locus

63
Q

Complimentary gene action

A

The genes working to code for two enzymes that work in succession, catalysing sequential steps of a metabolic pathway

64
Q

Epistasis vs Dihybrid

A

Epistasis = one characteristic
Dihybrid = Two characteristics

64
Q

Epistasis vs Dihybrid

A

Epistasis = one characteristic
Dihybrid = Two characteristics

65
Q

Recessive epistasis ratio

A

9:3:4

66
Q

Dominant epistasis ratio

A

12:3:1 / 13:3

67
Q

Complimentary gene action ratio

A

9:7 / 9:3:4 / 9:3:3:1

68
Q

What is the Chi-squared test

A

Statistical test designed to find out if the difference between observed and expected data is down to chance

69
Q

What do you need to do before you carry out the Chi-squared test

A

State a null hypothesis
“There is no statically significant difference between the observed and expected data. Any difference is down to chance”

70
Q

How do you work out the degrees of freedom

A

(number of categories -1)

71
Q

How do you work out whether you should reject/accept the null hypothesis

A

Read critical values at 95% certainty

If (x)2 is smaller the value in the table we can accept the null hypothesis / if bigger we can reject

72
Q

Discontinuous variation

A

Phenotype classes are distinct and discrete, each clearly discernible in a qualitative way’
-No/ few intermediaries
-Monogenic

73
Q

Discontinuous variation examples

A

epistasis ; gender ; blood group

74
Q

How is epistasis an example of Discontinuous variation

A

Genes at different gene loci may interact to influence one characteristic and produce discontinuous variation

75
Q

Continuous variation

A

Where the genetic variation between individuals shows a range with a small gradation between many intermediaries

=Variation that produces phenotypic variation where the quantitative traits vary in small amounts from one group to the next

76
Q

Continuous variation examples

A

Foot size; height ; leaf length; hair colour

77
Q

Continuous variation key features

A

-Polygenic: many genes involved in determining characteristics
-Alleles have an additive effect: alleles of each gene may contribute a small amount to the phenotype
=As a result the phenotypic categories vary in a quantitative way

78
Q

How is there more continuous variation

A

Greater no. of gene loci contributing to the determination of a characteristic

79
Q

Qualitative vs quantitative

A

Qualitative research generates non-numerical data
Quantitative research generates numerical data or information that can be converted into numbers

80
Q

Quantitative genetics

A

The study of genetics of inherited characteristics
i.e. many characteristics of crop plants are polygenic so plant breeders may need to apply knowledge of quantitative genetics

81
Q

When does quantitative genetics become more complicated

A

When gene loci increases to above 2
=trihybrid cross

81
Q

When does quantitative genetics become more complicated

A

When gene loci increases to above 2
=trihybrid cross

82
Q

Does the environment have a greater affect on polygenic/ monogenic characteristics

A

Polygenic

=Each person has the genetic potential for intelligence/ height but without mental stimulation/ nutrition these potentials will nit be reached

83
Q

Multiple alleles vs polygenic

A

Multiple alleles: versions of the same gene
Polygenic: Many gene loci

84
Q

What can change allele frequencies over time

A

Natural selection and genetic drift

85
Q

Natural selection

A

Individuals, which have mutations, which make them better suited to the environment are more likely to survive a selection pressure than the individuals without the mutation
-Individuals with mutation that survive will pass off advantageous alleles to offspring

86
Q

What results from Natural selection

A
  • Over time allele frequencies within a population will change
    -Can maintain constancy of species or lead to a new species
87
Q

Types of Natural selection

A

1) Stabilising
2) Directional
3) Disruptive

88
Q

Stabilising selection

A

When an organisms environment remains unchanged it favours intermediate phenotypes

89
Q

Directional selection

A

-Environment change may prefer a new phenotype and so results in a new population mean
-Individuals better suited to environment will survive under the selection pressure and pass on advantageous alleles to offspring
-Over several generations, there is a gradual shift in the optimum value for a trait

90
Q

Disruptive selection

A

Favours the extreme phenotypes and the intermediate phenotypes are selected against

91
Q

Genetic drift

A

A change in the allele frequency within a population over time
-This is caused by a chance event i.e. volcano/ earthquake

92
Q

Two things that cause a genetic drift

A

1) Genetic bottleneck
2) The Founder effect

93
Q

Genetic bottleneck

A

When an event such as a volcanic eruption greatly reduces the population and then over time the population increases again

94
Q

Effects of the genetic bottleneck

A

-Reduces genetic diversity
-Can affect fertility rates if population gets too small
-Could also improve population if surviving population has advantageous alleles to disease etc.

95
Q

Founder effect

A

A new population established by a small number of individuals, who originated from a larger parent population

96
Q

Founder effect affects

A

-Reduces genetic variation

97
Q

Important to remember for the Founder effect/ Bottlenecks

A

Do not cause mutations or the emergence of harmful alleles but they contribute to the increase of the frequency of mutations and harmful alleles within the resulting populations

98
Q

What is the Hardy Weinberg principle

A

Describes and predicts a balanced equilibrium int he frequencies of alleles and genotypes within a resulting population

99
Q

What does the Hardy Weinberg principle assume

A

1) The population is large enough to make a sampling error negligible
2) Mating within the population occurs at random
3) There is no selective advantage for any genotype and hence no selection
4) There is no mutation; migration; genetic drift

100
Q

Hardy Weinberg principle calcualtion

A

P+q=1
P(2) + 2Pq + (q)2 = 1

101
Q

Speciation

A

The process at which a new species is formed
-The two species can no longer interbreed

102
Q

How does speciation occur

A

-Species must be split into two isolated populations
-This avoids the mutations in one population affecting the other
-In each location the different selection pressures will accumulate different allele frequencies

103
Q

Sub-species

A

When during the evolutionary process the two populations are different but still able to freely interbreed

104
Q

Two types of isolating mechanisms

A

-Geographical = allopatric speciation
-Reproductive - sympatric speciation

105
Q

Geographical isolation

A

If population separated by geographical features i.e. mountains it acts as barrier to gene flow between the populations

106
Q

How does Geographical isolation work

A

1) Isolated population undergoes different selection pressures in the two different environments
2) Both undergo independent changes to different allele frequencies or/and chromosome arrangements within their gene pools
3) Genetic mutations can be a result of: Mutations; Natural Selection; genetic drift

107
Q

Allopatric isolation

A

Formation of two different species from an original species due to geographical isolation

108
Q

Reproductive isolation

A

Biological/ behavioural changes within a species may lead to reproductive isolation of one population from another

109
Q

Reproductive isolation e.g.

A

A change in the organisms foraging behaviour at the time of day may enable them to exploit a new niche and they’ll no longer mate with organisms awake at different times in the day

110
Q

How do genetic changes lead to reproductive isolation
A change in chromosome no. may

A
  • Prevent gamete fusion
    -Make zygotes less viable = fail to develop
    -Lead to infertile hybrid offspring with an odd no. of chromosomes, so that chromosome pairing during meiosis cannot occur
111
Q

What happens when members of the reproductively isolated population no longer mate with the original population due to mutations

A

Leads to changes in:
-Courtship behaviour i.e. time of year of mating
-Animal genitalia / plant flower structure

112
Q

Sympatric speciation

A

Formation of two different species from one original species, due to reproductive isolation, whilst populations inhibit the same geographical locations