Week 13 Flashcards

1
Q

What does the study of molecular genetics deal with?

A

deals with genes as molecules and investigates their interactions, patterns of inheritance, and functions.

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2
Q

What terms are used to describe molecular genetics?

A
Genotype & Phenotype
Dominant & Recessive
Wild type & Mutant
Genes & Alleles
F1 & F2 generations
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3
Q

What is commonly used to investigate genetics?

A

Arabidopsis seedlings

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4
Q

How are the roots observed from a number of different Arabidopsis seedlings?

A

compound microscope

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5
Q

How do you prevent contamination of the seedlings?

A

The seedlings have been grown on sterile petri dishes containing agarose plant growth medium, and it is necessary to prevent contamination of these plates.

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6
Q
Define-
1- Character
2-trait 
3-Phenotype
4-Gene
5-Allele
6-Dominant allele
7-Recessive allele
8-Dominant phenotype or trait
9-Recessive phenotype or trait
10-Genotype
A

1-Character - A heritable feature of an organism, such as flower colour.
2-Trait - The trait is each alternative form of a character determined by a gene or set of genes, e.g. red or blue flowers. Some traits are present and heritable but may not be observable.
3-Phenotype - The phenotype is a trait which is visible or detectable, e.g. we can observe different flower colours.
4-Gene - A genetic sequence coding for a particular character or trait.
5-Allele - A single copy of alternative forms of a gene. Pairs of alleles are found at the same locus on pairs of homologous chromosomes.
6-Dominant allele - If inherited by offspring, its effect will be seen in the phenotype. Often represented by upper case letters, e.g. A or B or CEN1.
7-Recessive allele - If inherited by offspring, its effect will not be seen in the phenotype in the presence of a dominant allele. Two copies of recessive alleles are needed for the effect to be shown. Often represented by lower case letters e.g. a or b or cen1
8-Dominant phenotype or trait - Determined by the dominant allele and will be observable if one dominant allele is inherited by the offspring.
9-Recessive phenotype or trait - Determined by the recessive alleles and will only be obervable if both copies of the ercessive allele are inherited by the offpsring.
10- Genotype - The alleles of particular genes which determine the phenotype e.g. A a or A A or a a or CEN1 cen1. Less commonly, it can also refer to an organism’s general genetic make-up.

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7
Q
Define-
1-Homozygous
2-Heterozygous
3-Locus
4- F1,F2 Generations
A

1-Homozygous - A genotype which has the same alleles for a single gene, e.g. a a or B B or CEN1 CEN1.
2-Heterozygous - Having different alleles for a single gene, e.g. A a orB b or CEN1 cen1.
3-Locus - The position of an allele on a chromosome.
4-F1, F2 generations - The parental generation, also known as the F0 or P generation, produces offspring in the F1 generation. Crossing offspring from the F1 generation produces the F2 generation.

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8
Q

How are alleles and genotypes written/formatted?

A

When writing genotypes and alleles you should use the same letter for each allele and use upper case to define dominant allele and lower case for recessive and written in italics. Therefore, heterozygous genotypes would be written Yy or Gg. If there are two genes being crossed then each gene would have a different letter, e.g. YyGg, and three genes could look like this, e.g. YyGgSs.

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9
Q

How are genes and mutants written/formatted?

A

n this practical you will come across the names of genes and the proteins which the code for. Genes are written in italics and are often shortened versions of the full gene name. Example:
The gene centipede1 is written as CEN1 with the number referring to the fact there may be more than one gene with the same name.
The wildtype is written in upper case letters (see above) and the mutant of that gene is written in lower case letters cen1 .
To refer to alleles of a single gene a hyphen can be used folllowed by a number. For example, the shrivel1 gene, shortened to SHV1 for the wildtype may have two alleles SHV1-1 and SHV1-2.
Wildtype: CEN1
Mutant: cen1
Gene name: centipede1

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10
Q

How are proteins written/formatted?

A

Naming proteins uses the same shortened code as the gene name but is not italicized and is often in upper case, e.g. the CEN1 gene codes for the CEN1 protein.
Protein: CEN1

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11
Q

What is a punnett square and what does it show?

A

A Punnett square is a diagram used for working out the predicted offspring of a cross between two parents. It appears as a grid with the alleles of the parents along the top and to the left, and the boxes of the grid containing the potential genotypes of the offspring.
The most basic Punnett square involves a single gene or locus with two alleles per gene per parent. This is known as a single locus or monohybrid cross. In terms of inheritance by offspring from each parent there are only 2 possibilities: allele 1 or allele 2. Therefore a 2 x 2 grid is used. Each box within the grid should have a 25% or 1 in 4 chance of appearing within the offspring.
If the number of loci is increased to 2 in a double locus or dihybrid cross, then the number of combinations which can be inherited by offspring from each parent increases to 4. Therefore a 4 x 4 grid is needed and each box within the grid has a 1 in 16 or 6.25% chance of appearing within the offspring.

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12
Q

What is a ratio and what is it used to show?

A

A ratio shows the number of one group relative to another group or groups. For example if there are 3 apples and 1 banana the ratio is apples:bananas = 3:1. The ratio would also be 3:1 if there were 6 apples to 2 bananas, or 300 apples to 100 bananas. If there was 2 oranges, 4 apples and 2 bananas the ratio would be oranges:apples:bananas = 2:4:2 = 1:2:1. The ratio would still be 1:2:1 if there were 50 oranges, 100 apples, and 50 bananas.
Ratios can also be written for percentages and vice versa. For a 3:1 ratio the percentage would be 75% to 25% (because 3 x 25% =75%), and a 1:2:1 ratio would be 25% to 50% to 25%.
Understanding ratios and percentages is important when using Punnett squares. Each box of the grid represents a possible genotype for the offpsring and each has a 25% chance of appearing. This means that all potential genotypes and phenotypes can be converted into ratios and percentages to predict the number of each type in the offpsring. Bare this is mind when using Punnett squares to predict the outcome of crosses.

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13
Q
What is the difference between-
1-Offspring phenotype
2-offspring genotype
3-Maternal genotype
4-Paternal genotype
A

1- The phenotype is the visible characteristic determined by the combination of alleles inherited from each parent. The phenotype for each box within the grid is determined by the genotype.
2- This is the combination of alleles, one inherited from each parent. The genotype determines the visible phenotype. Each box within the grid will contain a potential genotype.
3- This is the split into the separate alleles so that eacch one is placed alongsite a row of the grid.
4-This is separated into single alleles with one placed above each column of the grid. Alleles would be separated during meiosis when gametes are produced.

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14
Q

A single allele has alternative versions called genes. True or false?

A

False

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15
Q

Which of these statements about Mendel’s first law is TRUE?

A

Pairs of alleles are segregated at meiosis with one allele per gamete.

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16
Q

A cross is set up between two plants with blue flowers.

Most of the offspring produce blue flowers, about 75%, and the the rest produce white flowers.

Assuming that the flower colour is determined by a single gene, what can you tell from this about the parents’ genotypes?

A

They are both heterozygous for the flower colour gene.

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17
Q

A cross between two heterozygous parents for a single gene produce a phenotypic ratio of 3:1 in the offpsring.

Assuming that one allele is dominant and the other recessive, what percentage of the offspring are predicted to have the same phenotype as both parents?

A

75%

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18
Q

A true breeding wildtype flower with blue flowers, is crossed with a mutant with white flowers.

The first generation (F1) produces all blue flowers. Assuming the mutation affects only a single gene, which of these statements is TRUE?

A

The wildtype is homozygous

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19
Q

When the interaction of genes alters genetic ratios, this is called

A

epistasis

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20
Q

Thomas Hunt Morgan was one of the major contributers to the chromosomal theory of inheritance. Which of the following did Morgan study?

A

Eye color in fruit flies

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21
Q

The ______chromosomes are a pair of chromosomes that are different in males and females.

A

sex

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22
Q

In Drosophila melanogaster, which of the following sex chromosomes are found in a female?

A

XX

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23
Q
A human female will normally have \_\_\_\_\_\_
 autosome(s), \_\_\_\_\_\_
 X chromosome(s), and \_\_\_\_\_Y chromosome(s).
A

Blank 1: 44 or forty-four
Blank 2: 2 or two
Blank 3: 0, zero, or no

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24
Q

In a certain plant, fruit color is affected by an epistatic interaction between two genes. The fruit is red in the presence of at least one dominant allele of either or both gene A or gene B, and white when there are no dominant alleles present. What proportion of the offspring of a cross of AaBb x AaBb plants is expected to be red?

A

15/16

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25
Q

What researcher discovered that inheritance of eye color in fruit flies is sex-linked?

A

Morgan

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26
Q

What is an autosome?

A

Any chromosome that is not a sex chromosome

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27
Q

The term sex chromosomes refer to a distinctive pair of chromosomes that vary between ____and _____
individuals.

A

Blank 1: male or XY

Blank 2: female or XX

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28
Q

True or false: In humans, the Y chromosome contains many genes which have to be continuously expressed.

A

False

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29
Q
Match each organism with the correct description of its sex determination system.
1-Humans 
2-Birds 
3-Grasshoppers
4-Honeybees
A

Humans: Females are XX, and males are XY.
Birds: Females are ZW, and males are ZZ.
Grasshoppers: Females are XX, and males are XO
Honeybees: Females are diploid, and males are haploid

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30
Q

A trait that causes a disease, will occur more frequently in males than females if the trait is which of the following?

A

Recessive and X-linked

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31
Q

What chromosomes are normally found in a human male?

A

22 pairs of autosomes, one X chromosome, and one Y chromosome

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32
Q

What ensures that females do not produce twice as much of the proteins encoded by genes on the X chromosome as males produce?

A

Dosage compensation

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33
Q

Females may be genetic mosaics due to which of the following?

A

Inactivation of the X chromosome

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34
Q

_____ is the term for any chromosome that is not a sex chromosome.

A

autosome

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35
Q

Crossing over occurs during which phase of meiosis?

A

Prophase I

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36
Q

In humans, which of the following estimates represents the number of genes on the Y chromosome that are expressed?

A

Few

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37
Q

Recessive X-linked alleles affect which of the following?

A

Males more than females.

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38
Q

What is the purpose of dosage compensation?

A

It ensures that males and females express X-linked traits (proteins) at equal levels.

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39
Q

Females may be genetic mosaics due to inactivation of one of the two ____ chromosomes.

A

X

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40
Q

If two loci are on the same chromosome, a recombinant combination of alleles will occur in which of the following circumstances?

A

Only if a crossover occurs

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41
Q

When does crossing over occur?

A

During meiosis I

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42
Q

The study of the arrangement of genes in a species’ genome is known as which of the following?

A

Genetic mapping

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43
Q

If two crossovers occur between two loci, the gametes will receive which of the following?

A

The parental combination of alleles

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44
Q

What is the purpose of a three-point cross?

A

To order genes that are far apart from one another

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45
Q

For two genes on the same chromosome, a recombinant gamete will be produced only if a(n) _______ occurs between the two genes.

A

Blank 1: crossover, recombination, or crossing-over

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46
Q

Select all that apply

If one homologue carries alleles A and B and the other homologue carries alleles a and b and two crossovers occur between these loci, what allele combinations will be found in the gametes?

A

AB

ab

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47
Q

On a genetic map, long map distances are not accurate. What technique can be used to order genes that are far apart from one another?

A

A three-point cross

48
Q

If two loci are on the same chromosome, a recombinant combination of alleles will occur in which of the following circumstances?

A

Only if a crossover occurs

49
Q

When did we know about inheritance?

A

400 BC – Greek philosopher Hippocrates proposes that tiny particles from every part of the body of each parent became blended, producing an individual with the characteristics of both.

350 BC – Aristotle dismisses Hippocrates’ theory, noting that children do not always resemble parents. But Aristotle’s thinking about heredity still centers on a mixing of “fluids” from each parent.

50
Q

Examples of non-Mendelian Genetics:

A
  • Incomplete dominance
  • Co-dominance
  • Epistasis
51
Q

What does Mendelian genetics describe?

A

describes a very simplistic model of inheritance and gene expression. We have since found that there are many complexities beyond Mendel and exceptions to the rules.

• Mendel’s work brought the concept of the gene to the forefront and formed the basis of much of the genetics research which occurred in the 20th century.

52
Q

What are Incomplete dominance and Co-dominance?

A

Interactions at

the same loci

53
Q

What is Epistasis?

A

Interactions at

different loci

54
Q

Outline the concept of Blended inheritance?

A

• Until Mendel’s work, published in 1866, the idea of blended inheritance was generally accepted to account for inherited characteristics.
• Of course, this hypothesis doesn’t account for traits that skip a
generation, or the fact that we aren’t all one homogeneous
population (which is what would happen if traits were blended each time new progeny were created).
• Mendel proposed the “particulate” hypothesis of inheritance,
analogous to the gene idea.

55
Q

What is a gene?

A

A discrete unit of hereditary information consisting of a specific nucleotide sequence in DNA (or RNA in some viruses)

56
Q

Why did Mendel succeed?

A

→He chose the right organism.
→He asked the right question.
→He used an appropriate scientific method.

57
Q

What are model organisms and give mendel’s example?

A
  • He chose the right organism…
  • Model organisms are non-human species which have been extensively studied • Many of the model organisms are only used today because of their qualities that lend themselves to genetics experiments:
  • Short generation time- perform crosses without having to wait years
  • Many offspring produced per generation-
  • Easy/cheap to grow in the lab- easy to culture wont take up much space.
  • Easy to cross fertilise/self fertilise-
58
Q

What were the right organisms?

A

Garden peas (Pisum)

Many seeds per cross- large sample sizes
Short generation time
Easy to self-fertilise and cross fertilise
Discrete traits

59
Q

Why are the Seven characters in Mendel’s pea plants easy to cross?

A

All encoded by one gene making them easy to cross

60
Q

What was the scientific method used?

A

Used a paint brush in order to transfer the pollen from one plant to another. Cut of the stamens to stop self-fertilisation. And took pollen from the main parent and brushed it onto the female parent- was able to control the crosses.

61
Q

What are the true breeding lines?

A

• Mendel made true breeding lines
• Generations of plants from each line, all looked identical to each other 14
= Homozygous i.e. both copies of each gene (alleles) at a given locus are the same

62
Q

What was Mendel’s true breeding line experiment?

A

Carried out some paired crosses- by taking two individuals and crossing them together via cross fertilisation. And then observed the phenotypes of the first generation. Yellow seemed to be dominant over green.

63
Q

Mendel’s experiments: Paired crosses

A

yellow is dominant over green

round is dominant over wrinkly

64
Q

What is actually happening to produce the observed effect?

A

Mendel hypothesised that the heritable factor for wrinkly peas did not disappear in the F1 progeny, but was somehow hidden before it was able to reappear in the F2 plants.
Smooth is dominant to wrinkly
Yellow is dominant to green

  • We now know that these traits are coded for by alleles
  • Alleles are alternative forms of a gene at a given locus (position on the chromosome)
  • We can denote these alleles with a letter or name;
  • The WT or dominant form is usually in CAPITALS and italics
  • The mutant or recessive form is usually in lowercase and italics
65
Q

What is the 3:1 ratio?

A
  • Show that a trait is controlled by just one region of the genome (a single locus)
  • And that the alleles involved show complete dominance or recessiveness
  • Trait “skips generation”, then reappears
66
Q

What is actually happening to

produce the observed effect?

A

Smooth is dominant to wrinkly
Yellow is dominant to green
R r
Y y
• We now know that these traits are coded for by alleles
• Alleles are alternative forms of a gene at a given locus (position on the
chromosome)
• We can denote these alleles with a letter or name;
• The WT or dominant form is usually in CAPITALS and italics
• The mutant or recessive form is usually in lowercase and italics

67
Q

Mendel’s first law:

A
  • Alternative versions of genes account for variations in inherited characters
  • For each character, an organism inherits two copies (alleles) of a gene, one from each parent – true for diploid organisms only
  • If two alleles at a locus differ, then one, the dominant allele, determines the organism’s appearance; the other, the recessive allele, has no noticeable effect on the organism’s appearance
  • The two alleles for a heritable character segregate during gamete formation and end up in different gametes
68
Q

Mendel’s experiments;

Following two traits at once

A

Mendel discovered his second law, that of independent assortment, by following two characters at once in a cross…

69
Q

First generation contains-

A

all share the same phenotype which is smooth and yellow. Heterozygous for both traits, because there is incomplete dominance being shown they all have the smooth and yellow trait.

70
Q

Creation of F2

generation

A
Dihybrid cross
If colour and shape characters
were to remain associated…
If characters were to remain
associated during segregation,
then you would expect a 3:1 ratio
of phenotypes
71
Q

When did we know about inheritance?

A

400 BC – Greek philosopher Hippocrates proposes that tiny particles from every part of the body of each parent became blended, producing an individual with the characteristics of both.

350 BC – Aristotle dismisses Hippocrates’ theory, noting that children do not always resemble parents. But Aristotle’s thinking about heredity still centres on a mixing of “fluids” from each parent.

72
Q

What is blended inheritance?

A

• Until Mendel’s work, published in 1866, the idea of blended inheritance was generally accepted to account for inherited characteristics.
• Of course, this hypothesis doesn’t account for traits that skip a
generation, or the fact that we aren’t all one homogeneous
population (which is what would happen if traits were blended each
time new progeny were created).
• Mendel proposed the “particulate” hypothesis of inheritance,
analogous to the gene idea.

73
Q

What is mendelian genetics?

A

• Mendel’s work brought the concept of the gene to the forefront and formed the basis of much of the genetics research which occurred in the 20th century.

74
Q

What is a gene?

A

A discrete unit of hereditary information consisting of a specific nucleotide sequence in DNA (or RNA in some viruses)

75
Q

Why did Mendel succeed?

A

→He chose the right organism.
→He asked the right question.
→He used an appropriate scientific method.

76
Q

How did Mendal choose the right organism?

A

Model organisms.

  • He chose the right organism…
  • Model organisms are non-human species which have been extensively studied • Many of the model organisms are only used today because of their qualities that lend themselves to genetics experiments:
  • Short generation time- perform crosses without having to wait years
  • Many offspring produced per generation-
  • Easy/cheap to grow in the lab- easy to culture wont take up much space.
  • Easy to cross fertilise/self fertilise-
77
Q

Why was the Garden Pea (Pisum) the right organism?

A

Garden peas (Pisum)

Many seeds per cross- large sample sizes
Short generation time
Easy to self-fertilise and cross fertilise
Discrete traits

78
Q

What were the seven characteristics in Mendel’s pea plants?

A

Dominant x Recessive trait

Pod colour- Green x Yellow 
Flower position- Axial x Terminal
Stem length- Tall x Dwarf  
Flower colour- Purple x White
Seed colour- Yellow x Green  
Seed shape- Round x Wrinkled  
Pod shape- Inflated x constricted
79
Q

Why are the 7 characteristics easy to cross?

A

All encoded by one gene

80
Q

What was involved in the scientific method?

A

Used a paint brush in order to transfer the pollen from one plant to another. Cut of the stamens to stop self-fertilisation. And took pollen from the main parent and brushed it onto the female parent- was able to control the crosses.

81
Q

What are true breeding lines?

A

• Mendel made true breeding lines
• Generations of plants from each line, all looked identical to each other 14
= Homozygous i.e. both copies of each gene (alleles) at a given locus are the same

82
Q

What was the result of carrying out some paired crosses?

A

by taking two individuals and crossing them together via cross fertilisation. And then observed the phenotypes of the first generation. Yellow seemed to be dominant over green.

Yellow is dominant over green and round is dominant over wrinkly.

If you self the F1 generation, you get a mixture of progeny phenotypes and you are able to restore the recessive traits in the F2 generation.

83
Q

What is actually happening to produce the observed effect?

A

Mendel hypothesised that the heritable factor for wrinkled peas did not disappear in the F1 progeny, but was somehow hidden before it was able to reappear in the F2 plants.
Smooth is dominant to wrinkled
Yellow is dominant to green

  • We now know that these traits are coded for by alleles
  • Alleles are alternative forms of a gene at a given locus (position on the chromosome)
  • We can denote these alleles with a letter or name;
  • The WT or dominant form is usually in CAPITALS and italics
  • The mutant or recessive form is usually in lowercase and italics
84
Q

Why do we know that they are homozygous?

A

they were true breeding lines .

85
Q

Punnett square is just a _____ that helps find the ______.

A

matrix

phenotype.

86
Q

What is observed from a monohybrid cross?

A

A monohybrid cross- a cross concerning a single characteristic.

We have a 3:1 ratio of phenotypes and a 1:2:1 ratio of genotypes in the F2 generation.

87
Q

What is the 3:1 ratio?

A
  • Show that a trait is controlled by just one region of the genome (a single locus)
  • And that the alleles involved show complete dominance or recessiveness
  • Trait “skips generation”, then reappears
88
Q

What was Mendel’s first law?

A
  • Alternative versions of genes account for variations in inherited characters
  • For each character, an organism inherits two copies (alleles) of a gene, one from each parent – true for diploid organisms only
  • If two alleles at a locus differ, then one, the dominant allele, determines the organism’s appearance; the other, the recessive allele, has no noticeable effect on the organism’s appearance
  • The two alleles for a heritable character segregate during gamete formation and end up in different gametes
89
Q

What was his second law?

A

Following two traits at once
Mendel discovered his second law, that of independent assortment, by following two characters at once in a cross…

All F1 progeny have heterozygous genotype for both traits, with the phenotype yellow and smooth.

  • Each character is independently inherited during gamete formation.
  • “Law of independent assortment”
90
Q

How is the creation of F2 generation achieved?

A

Dihybrid cross.
First generation contains- all share the same phenotype which is smooth and yellow. Heterozygous for both traits, because there is incomplete dominance being shown they all have the smooth and yellow trait.

If colour and shape characters were to remain associated during segregation then you would expect a 3:1 ratio of phenotypes.

91
Q

From Mendel’s experimental data he produced 9:3:3:1, why not 3:1?

A

Lead to the idea of independent assortment.

If colour and shape were able to independently assort into different gametes we produce a 9:3:3:1 in the F2 generation.

92
Q

What if we get deviations from the Mendelian ratios?

A

Mendelian genetics describes a very simplistic model of inheritance and gene expression. We have since found that there are many complexities beyond Mendel and exceptions to the rules.

  • Incomplete dominance
  • Co-dominance
  • Epistasis

Incomplete dominance and co-dominance both describe interactions at the same loci. This means that there are interactions between alleles, alleles with the same gene. Epistasis describes interactions at different loci, so these are more than one gene interacting with each other.

93
Q

What is Incomplete (semi) dominance?

A

Mendel didn’t know about this and his results are in fact perfect. When you get incomplete dominance though you get phenotypes that don’t look like any of the parents. Classic example is with snapdragons and this has something to do with the pigments. White pigment is a non functioning pigment or gene. End up with a pink coloration. Dominance often describes functional over non-functional. We get the heterozygote looks like neither parent and instead it’s a blend of both.

  • Curly, wavy, straight hair
  • Red/pink/white snap dragons
  • Generates forms that look like neither parent (a blend of both)
94
Q

What is Incomplete Dominance?

A
  • In incomplete dominance, neither allele is dominant so there is a blending of traits when two different alleles for the same trait occur together.
  • Colours blend together
  • (heterozygous individuals = 3rd phenotype)
95
Q

What is Co-dominance?

A
  • Heterozygote expresses both forms
  • (unlike incomplete dominance where heterozygote forms a new, intermediate, phenotype)
  • Offspring can look like both parents at once

Both alleles are expressed, so phenotypes are expressed together. Mixture of alleles from both parents. Heterozygous for both colour alleles.
• Both alleles contribute to the phenotype of the organism by showing up simultaneously (at the same time) in heterozygous individuals.
• In cattle and horses, if you cross a pure red (RR) with a pure white (WW), you get (RW) which produces the colour roan.
• These cattle or horses actually have both red and white hairs intermixed, or are spotted. Roan is a third phenotype.
• If you cross a roan with a white…

96
Q

What if alleles at different loci interact?

A

Epistasis- expression of one gene affects another one. Causes deviations from the Mendelian ratios.
Interactions between alleles at DIFFERENT LOCI

Very few genes act alone and usually produce proteins that interact with other proteins.
Epistasis: interactions between loci: usually where products of genes interact + regulate gene expression

97
Q

What is an example of epistasis?

A

A classic example is with colourations in dogs. What we get is the epistatic allele of one gene prevents a second gene from showing its affect e.g. coat colour in mammals.

You have a pigment and a pigment precursor. At locus E you either have the allele that codes for the precursor or the one that does not. If you have the pigment precursor you have the ability to either show the black or brown colouration. If there is no pigment you won’t be able to express it. Changing the mendelian ratio.

Epistatic allele of one gene prevents a second gene from showing its affect e.g. coat colour in mammals.

98
Q

What happens in Epistasis in Labradors?

A

Phenotypes- although we expect a 9:3:3:1 ratio of phenotypes we actually get a 9:4:3 ratio of phenotypes.

Need a big sample to show epistasis- this could be a problem if some of the mutations are associated with the lowering of fitness.

99
Q

So why are the Mendel’s ratios not produced?

A
  • When Mendel’s ratios aren’t produced:
  • As a result of interactions at the same loci
  • As a result of interactions between the products of different loci
  • Other exceptions to Mendelian ratios
100
Q

How are the Mendel’s used in the lab?

A
  • Mendel’s laws – used every day in genetic research.
  • Imagine you are researching obesity:
  • Pro-OpioMelanoCortin (POMC) deficiency
  • Have a normal and obese line which you have shown are pure breeding lines…
101
Q

How do you test the action of the mutant allele?

A

Crossing it with the wild type mice, but they need to be true breeds, so homozygous.
Can observe the phenotypes of the F1 generation. We can tell that depending on the phenotype of the F1 progeny will tell us about the action of the new mutant allele. Because all the offspring will be heterozygous for this new mutation then depending on its phenotype it will either show that the novel mutant allele will be dominant or recessive.

New mutant allele is recessive.

102
Q

How is Mendel’s law used in everyday genetic research?

A

To test if a new allele is recessive or dominant
• show phenotype is true breeding
• cross mutant (which presents new allele) with wild type
• If F1 individuals new phenotype → new allele dominant
• If F1 individuals wild type → new allele recessive

103
Q

How do we use mice to find new alleles or genes affecting obesity?

A

Exposing mice to chemical mutagen causes random mutations. You would then need to cross these either with each other or the wild type in order to get new progeny. Isolation and mapping provides insight into human disease.

Take these mutants- two novel mutants that have been generated independently we then want to learn a bit more about which genes have been mutated.

You need to test if:

The mutants are recessive.
Each mutant is mutated in only one gene affecting the relevant process

It’s likely that most phenotypes have the possibility to have more than one gene affecting it, this is known as polygenic inheritance.

104
Q

What is Nomenclature?

A

Genes are usually named according to their function, and as most are discovered by knocking out that function, they tend to have an inverse name. So, if we discovered the first gene that when mutated causes obesity, it would be sensible to call it OBESE1 (note that gene names are given in italics), then, if further genes are discovered to regulate the same process we can just number them sequentially; OBESE2, OBESE3…

Often, genes will have multiple alleles that can be present at a particular loci. When we discover these new gene variants (alleles), it is also sensible to number them sequentially – but so that they don’t get confused with new genes, we use a hyphen to show the distinction; e.g. obese1-1, obese1-2, obese1-3

Nomenclature:

This naming convention is important to use correctly so that we aren’t easily confused between different alleles of the same gene, and different alleles of different genes.
If the phenotypes of the two mice above are coded for by different variations of the same gene, i.e. different alleles, then we should call the gene something (e.g. OBESE1) and then hyphenate numbered alleles to make it clear they are different versions of that gene:

105
Q

Test hypothesis that the two mutants are recessive alleles of the same gene:

A

To test if the new mutants are coded for by recessive or dominant alleles – we first cross them with the WT.
• If F1 progeny are all WT then the new mutant allele is recessive
• If F1 progeny are all mutant, then the new mutant allele is dominant For this case, let’s assume both mutants are coded for by recessive alleles.

To test if the new mutants are coded for by different alleles of the same gene, we cross them with each other…

We may not know what the phenotype looks like exactly for this genotype, but we can predict whether it will be mutant or WT in appearance.

106
Q

What if the two mutants are recessive alleles of different genes?

A

To test if the new mutants are coded for by different alleles of the same gene, we cross them with each other…

Nomenclature: as these are being treated as different genes, they need to have their names reflect that

107
Q

The law of independent assortment determines that genes on _______ chromosomes assort independently.

A

non-homologous

108
Q

Alleles on _____ chromosomes have ___ chance of ending up in the same gamete together. This is due to ______ _______.

A

different
50%
independent assortment.

109
Q

Autosomal linkage-

A

The closer the loci are the less likely they are to separate by crossing over and the loci will remain linked and less crossing over occurs.

Genetic loci physically close to one another on the same chromosome tend to stay together during meiosis, and are therefore genetically linked. This is called autosomal linkage.

110
Q

Linkage-

A

However sometimes this does not happen and the alleles for different loci sometimes do NOT independently sort. In this case the loci are said to be in linkage. Linkage occurs when particular genetic loci are inherited jointly.

111
Q

There is a greater probability of ______/_______ occurring if the alleles are ___ ____ on the chromosome, as it is more likely that a _____ will occur between them. More space between the loci.

A

crossovers/recombination
far apart
crossover

112
Q

Two consequences of meiosis

A

Recombination: movement of genetic material between chromosomes (= New genetics of Morgan…)

Segregation: Even distribution of chromosomes during meiosis (= Mendelian genetics).

113
Q

Recombination Frequency

A
  • How often recombination (crossing over) occurs between genes
  • Measured as the fraction or percentage of offspring that inherit recombinant chromosomes
  • These offspring are called “recombinants”
  • Recombinant chromosomes are chromosomes where the alleles of interest have been separated by a recombination event (crossing over)

Recombination frequency:
= 391 recombinants x100 2300 total offspring

Units are:
1. Proportion of recombinants (17%)
2. OR centiMorgans (cM) 1 = distance at which 1% of offspring are recombinant
Can see the distance of genes on a chromosome.

114
Q

Recombination is less likely between genes that are close together- why

A

• The further apart two genes are the more points there are between them where crossing over might happen Therefore, recombination frequencies show where genes are relative to each other on chromosomes.

Simply because there is less DNA between them, there is a lesser chance that chiasmata will form.
The further apart the two genes are located the greater the chance of recombination happening between them. The closer the lower the chance.

115
Q

Mapping calculations-

A
  1. Identify recombinants
    • These have new combinations of alleles resulting from recombination (crossing over).
  2. Add up no. of recombinants
  3. Add up total no. of progeny 4. Put into equation
116
Q

X-inactivation

A
  • The inactivation of one of the two copies of the X chromosome in females.
  • During early embryonic development one of the X chromosomes condenses into a compact object called a Barr body.
  • Most of the genes in the Barr body are now not expressed and it lies along side the nuclear envelope.

BUT since only one of a woman’s X chromosomes works, why aren’t more women colour blind?

Reason: The decision on which X chromosome is inactivated is made on a cell by cell basis when the embryo consists of a few hundred cells. The daughter cells that come from these cells will have the same X chromosome inactivated.
The human eye comes from several different cells, hence some will have one X-chromosome inactivated while the rest have the other.
And this is why a woman who is a carrier for colour blindness can still tell red from green, i.e. some of the cells in her eyes have the X with the working copy of the opsin gene.