5 Genes and inheritance Flashcards

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1
Q

What did Mendel find that for every feature or character he investigated?

A
  • A ‘heritable unit’ (what we now call a gene) is passed from one generation
    to the next.
  • The heritable unit (gene) can have alternative forms (we now call these
    different forms alleles).
  • Each individual must have two alternative forms (alleles) per feature.
  • The gametes only have one of the alternative forms (allele) per feature.
  • One allele can be dominant over the other.
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2
Q

What did Mendel notice about pea plants?

A

Mendel noticed that many of the features of pea plants had two alternative forms.

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3
Q

What is an example of these alternative forms?

A

For example, plants were either tall or very short (called a ‘dwarf’ variety); they either had purple or white flowers; they produced yellow seeds or green seeds.

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4
Q

Were there intermediate forms?

A

There were no intermediate forms.

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5
Q

What do you mean by intermediate forms?

A

There were no pale purple flowers or
green/yellow seeds or intermediate height plants.

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6
Q

What is an image which shows some features of pea plants used by Mendel in his breeding experiments?

A
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7
Q

What did Mendel decide to do?

A

Mendel decided to investigate, systematically, the results of cross breeding plants that had contrasting features.

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8
Q

What were these plants known as?

A

These were the ‘parent plants’.

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9
Q

What were these parent plants referred to in genetic diagrams?

A

P.

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10
Q

What did Mendel do to each plant?

A

He transferred pollen from one experimental plant to another.

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11
Q

What did Mendel make sure about each plant?

A

He also made sure that the plants could not be self-fertilised.

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12
Q

What did he do in terms of seeds?

A

He collected all the seeds formed, grew them and noted the features that each
plant developed.

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13
Q

What were these plants called that grew from the seeds?

A

These plants were the first generation of offspring, called the F1 generation.

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14
Q

What was the F1 generation?

A

Offspring formed from breeding the
parent organisms.

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15
Q

What did he do to these plants?

A

He did not cross-pollinate these plants, but allowed them to self-fertilise.

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16
Q

What is cross-pollination?

A

Transfer of pollen from an anther of one plant to a stigma of a different plant of the same species.

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17
Q

What is self-fertilise?

A

Fertilization that occurs when male and female gametes produced by the same organism unite.

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18
Q

After the F1 generation self-fertilised, what did he do?

A

Again, he collected the seeds, grew them and noted the features that each plant developed.

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19
Q

What were these new plants called?

A

These plants formed the second generation of offspring or F2 generation.

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20
Q

What is the F2 generation?

A

The offspring formed from breeding
individuals from the F1 generation.

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21
Q

What is an image that shows what happened when mendel used pure-breeding tall and pure-breeding dwarf plants as his parent plants?

A
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22
Q

Were these results specific to only the pea plants?

A

Mendel obtained similar results when he carried out breeding experiments
using plants with other pairs of contrasting characters.

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23
Q

What are two particular things that Mendel noticed in all his experiments?

A
  • All the plants of the F1 generation were of one type. This type was not a
    blend of the two parental features, but one or the other. For example, when
    tall and dwarf parents were crossed, all the F1 plants were tall.
  • There was always a 3:1 ratio of types in the F2 generation. Three-quarters
    of the plants in the F2 generation were of the type that appeared in the F1
    generation. One-quarter showed the other parental feature. For example,
    when tall F1 plants were crossed, three-quarters of the F2 plants were tall
    and one-quarter were dwarf.
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24
Q

How did Mendel use his findings?

A

Mendel was able to use his findings to work out how features were inherited,
despite having no knowledge of chromosomes, genes or meiosis.

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25
Q

What can we do with his results nowadays?

A

Nowadays we can use our understanding of these ideas to explain Mendel’s results.

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26
Q

What are seven explanations of Mendel’s results?

A
  • Each feature is controlled by a gene, which is found on a chromosome.
  • There are two copies of each chromosome and each gene in all body cells, except the gametes.
  • The gametes have only one copy of each chromosome and each gene (i.e.
    one allele).
  • There are two alleles of each gene.
  • One allele is dominant over the other allele, which is recessive.
  • When two different alleles (one dominant and one recessive) are in the same cell, only the dominant allele is expressed (shown in the appearance of the organism).
  • An individual can have two dominant alleles, two recessive alleles or a
    dominant allele and a recessive allele in each cell
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27
Q

What is an allele?

A

Different forms of a gene.

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28
Q

What does dominant mean?

A

Allele of a gene that is expressed in
the heterozygote.

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29
Q

What does recessive mean?

A

Allele that is not expressed in the phenotype when a dominant allele of the gene is present (i.e. in the
heterozygote).

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30
Q

What can we use as an example to explain Mendel’s results?

A

We can use the cross between tall and dwarf pea plants as an example.

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31
Q

What are the two different alleles in pea plants?

A

In pea plants, there are tall and dwarf alleles of the gene for height.

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32
Q

What is the symbol that we will use for the tall allele?

A

T

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33
Q

Why have we used a capital T?

A

This is because tall is the dominant allele.

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34
Q

What is the symbol that we will use for the short allele?

A

t

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35
Q

What does genotype mean?

A

It is the alleles an organism has for a certain characteristic.

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35
Q

Why have we used a lowercase t?

A

This is because short i the recessive allele.

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36
Q

What does phenotype mean?

A

How a gene is expressed. The ‘appearance’ of an organism resulting from its genotype.

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37
Q

What is the sequence followed when writing genetic diagrams?

A
  • Phenotype of parents.
  • Genotype of parents.
  • Gametes (sex cells).
  • Punnet square.
  • Ratio.
  • Percentage.
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38
Q

What is an image that shows the results of crosses using tree-breeding tall and dwarf pea plants?

A
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39
Q

What is important to note about the ratios given in genetic crosses?

A

It is important to remember that in genetic crosses, ratios such as 3:1 are
predicted ratios.

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40
Q

Are the actual numbers likely to fit the predicted ones?

A

In breeding experiments the actual numbers of offspring are unlikely to exactly fit a 3:1 ratio.

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41
Q

What is an example of how the ratios are solely just predicted?

A

For example, one of Mendel’s experiments produced 787 tall plants and 277 dwarf plants. This is a ratio of 2.84:1, not quite the expected 3:1.

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42
Q

So will the real ratios usually be around the same as predicted ratios?

A

Yeah, but not exactly.

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43
Q

What is the reason for getting another ratio?

A

The reason for this is that there are a number of factors that affect survival of the plants.

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44
Q

What are some of the factors that effect the survival of the plants?

A
  • Some pollen may not fertilise some ova.
  • Some seedlings may die before they
    mature.
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45
Q

What are these events called?

A

These are unpredictable or ‘chance’ events.

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46
Q

Why do we still continue to use these predictions then?

A

The numbers that Mendel found were statistically close enough to the expected 3:1 ratio, and he found the same thing when he repeated his experiments with other
characteristics

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47
Q

What can you not tell solely by just looking at pea plants?

A

Whether it is homozygous, or heterozygous.

48
Q

What does homozygous mean?

A

Genotype with the same alleles of a gene, e.g. AA or aa.

49
Q

What does heterozygous mean?

A

Genotype with different alleles of a gene, e.g. Aa.

50
Q

How would both of these genotypes appear?

A

Equally tall because the tall allele is dominant.

51
Q

What information would be useful to find out the genotype of the plant then?

A

It would help if you knew the genotypes of its parents.

52
Q

What could we then do with the genotypes of its parents?

A

You could then write out
a genetic cross and perhaps work out the genotype of your tall plant.

53
Q

What can you do if tou don’t know the genotypes of the parents?

A

The only way you can find out is by
carrying out a breeding experiment called a test cross.

54
Q

What is a test cross?

A

Cross of an organism showing the dominant phenotype with one showing the recessive phenotype. The F1 from the cross shows whether the parent is homozygous dominant or heterozygous.

55
Q

What is the factor under investigation in a test cross?

A

In a test cross, the factor under investigation is the unknown genotype of an organism showing the dominant phenotype.

56
Q

What genotype could a tall pea plant have?

A

TT or Tt.

57
Q

What must you control?

A

You must control every other possible variable including the genotype of the plant you breed it with.

58
Q

What is the only genotype you can be certain of?

A

It is the genotype of plants showing the recessive phenotype (in this case dwarf plants).

59
Q

What must be the genotype of these plants which show the recessive phenotype?

A

They must have the genotype ttt.

60
Q

What do we do in an example?

A

You must breed the ‘unknown’ tall pea plant (TT or Tt) with a dwarf pea plant (tt).

61
Q

How can we predict the outcomes for each?

A

You can write out a genetic cross for both possibilities (TT ́ tt and Tt ́ tt) and predict the outcome for each.

62
Q

What do you then do with the results?

A

You can then compare the result of the breeding experiment with the predicted outcome, to see which result matches the prediction most closely.

63
Q

What is an example of this test cross?

A
64
Q

What would we expect to get in terms of offspring from this test cross?

A
  • All the offspring to be tall if the tall parent was homozygous (TT).
  • Half the offspring to be tall and half to be dwarf if the tall parent was
    heterozygous (Tt).
65
Q

Why are genetic crosses useful?

A

Writing out a genetic cross is a useful way of showing how genes are passed
through one or two generations, starting from the parents.

66
Q

How can we show the family history of a genetic condition?

A

We can use a diagram called a pedigree.

67
Q

What is a pedigree?

A

Diagram showing a family tree for an inherited characteristic.

68
Q

What is polydactyly?

A

It is an inherited condition in which a person develops an extra digit
(finger or toe) on the hands and feet.

69
Q

What kind of allele is polydactyly determined by?

A

It is determined by a dominant allele.

70
Q

What does the recessive allele do?

A

The recessive allele causes the normal number of digits to develop.

71
Q

What symbol would we use for the polydactyly allele?

A

D.

72
Q

What symbol would we use for the normal-number allele?

A

d.

73
Q

What are the possible genotypes and phenotypes when using these symbols?

A
  • DD.
  • Dd.
  • dd.
74
Q

What does DD mean in this context?

A

Person has polydactyly (has two dominant polydactyly alleles).

75
Q

What does Dd mean in this context?

A

Person has polydactyly (has a dominant polydactyly allele and a recessive normal allele).

76
Q

What does dd mean in this context?

A

Person has the normal number of digits (has two recessive, normal-
number alleles).

77
Q

What is a diagram of a pedigree showing the inheritance of polydactyly in a family?

A
78
Q

What is the information that we can extract, just based on this pedigree?

A
  • There are four generations shown (individuals are arranged in four horizontal lines).
  • Individuals 4, 5 and 6 are children of individuals 1 and 2 (a family line
    connects each one directly to 1 and 2)
  • Individual 4 is the first-born child of 1 and 2 (the first-born child is shown to
    the left, then second born to the right of this, then the third born and so on)
  • Individuals 3 and 7 are not children of 1 and 2 (no family line connects them
    directly to 1 and 2).
  • Individuals 3 and 4 are father and mother of the same children – as are 1
    and 2, 6 and 7, 8 and 9, 12 and 13, 14 and 15 (a horizontal line joins them).
79
Q

What can we work out from a pedigree in terms of alleles?

A

It is usually possible to work out which allele is dominant from a pedigree.

80
Q

How do you find out which allele is dominant?

A

You look for a situation where two parents show the same feature and at least one child shows the contrasting feature.

81
Q

What is an example of this in this specific pedigree?

A

Individuals 1 and 2 both have
polydactyly, but children 4 and 6 do not.

82
Q

How can we explain why children 4 and 6 do not have polydactyly?

A
  • The normal alleles in 4 and 6 can only have come from their parents (1 and 2),
    so 1 and 2 must both carry normal alleles.
    -1 and 2 show polydactyly, so they must have polydactyly alleles as well.
  • If they have both polydactyly alleles and normal alleles but show
    polydactyly, the polydactyly allele must be the dominant allele.
83
Q

What can we know now that which allele is dominant?

A

We can work out most of the genotypes in the pedigree.

84
Q

What must the people with the normal number of digits have as their genotype?

A

All the people with the normal number of digits must have the genotype dd (if they had even one D allele, they would show polydactyly).

85
Q

What must all the people with polydactyly have in terms of their alleles?

A

All the people with polydactyly must have at least one polydactyly
allele (they must be either DD or Dd).

86
Q

From here, how could we work out the genotypes of people with polydactyly?

A

To do this we need to remember that people with the normal number of digits must inherit one ‘normal-number’ allele from each parent, and also that people with the normal number of digits will pass on one ‘normal- number’ allele to each of their children.

87
Q

What can we say about any person with polydactyly who has children with the normal number of digits?

A

They must be heterozygous.

88
Q

Why must they be heterozygous?

A

Because the child must have
inherited one of their two ‘normal-number’ alleles from this parent.

89
Q

Who else would be heterozygous in this pedigree?

A

That any person with polydactyly who has one parent with the normal number of digits must also be heterozygous (the ‘normal-number’ parent can only have passed on a ‘normal-number’ allele).

90
Q

What is an image of a pedigree showing the inheritance of polydactyly in a family, with details of genotypes added?

A
91
Q

Which individuals are we still uncertain about?

A

We are still uncertain about individuals 5, 8 and 12.

92
Q

What could individuals 5, 8, and 12 be?

A

They could be homozygous or heterozygous.

93
Q

What is some information that we need to bear in mind about individuals 1 and 2 to find out about 5?

A

They are both heterozygous.

94
Q

What is a diagram of possible outcomes from a genetic cross between two parents, both heterozygous for polydactyly?

A
95
Q

What is an explanation of this diagram?

A

Individual 5 could be any of the outcomes indicated by the shading. It is impossible to distinguish between DD and Dd.

96
Q

What is our sex determined by?

A

Our sex – whether we are male or female – is determined by the X and Y chromosomes.

97
Q

What are the sex chromosomes?

A

The pair of chromosomes that determine sex in humans. XX in females, XY in males.

98
Q

What are these X and Y chromosomes?

A

The sex chromosomes.

99
Q

As well as the 44 non-sex chromosomes what are two chromosomes in all cells of females (apart from egg cells)?

A

XX.

100
Q

As well as the 44 non-sex chromosomes what are two chromosomes in all cells of males (apart from sperm cells)?

A

XY.

101
Q

What is our sex effectively determined by?

A

The presence or absence of the Y chromosome.

102
Q

What is a diagram showing the determination of sex in humans?

A
103
Q

What is an explanation of this diagram?

A

In any one family, however, this ratio may well not be met.

104
Q

Why may this ratio not be met?

A

Predicted genetic ratios are
usually only met when large numbers are involved.

105
Q

What is the overall ratio of male and female births in all countries?

A

It is 1:1.

106
Q

What have all of the genetic crosses so far had in common?

A

All of the genetic crosses that you have seen in this chapter have been examples of inheritance involving single genes.

107
Q

Why have they involved single genes?

A

The reason for this is that it is easier to
draw genetics diagrams and explain what is happening if we start by considering alleles of a single gene.

108
Q

What do these single-gene diagrams disregard?

A

The fact that many characteristics are controlled by two or more genes working together.

109
Q

What is this called?

A

Polygenic inheritance.

110
Q

What is polygenic inheritance?

A

Characteristics controlled by two or more genes working together

111
Q

What is a good example of polygenic inheritance?

A

A good example is human skin colour.

112
Q

What does darker skin contain?

A

Darker skins contain greater amounts of a black pigment called melanin. This is controlled by several genes, which act together to determine the amount of melanin in the skin.

113
Q

What does each gene have in terms of alleles and melanin production?

A

Each gene has alleles that promote melanin production and alleles which do not.

114
Q

What do these genes allow?

A

This produces a wide range of phenotypes.

115
Q

What are other human characteristics determined by several genes?

A
  • Human height.
  • Body mass (weight).
116
Q

What are polygenes?

A

It is the name given to a group of several genes working together to determine a characteristic, e.g. height
in humans.

117
Q

What are most phenotypic features a result of?

A

Polygenic inheritance rather than single genes.