Paper 2B Part 2 Flashcards

You may prefer our related Brainscape-certified flashcards:
1
Q

Define genepool

A

all the alleles of all the genes of all the individuals in a population at a given time at a given time

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What is natural selection?

A

the process by which organisms that are better adapted to their environment tend to survive and breed at the expense of those less well adapted.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Phenotypic variation is a result of:

A
  1. Genetic factors 2. Environmental factors
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Why does genetic variation occur?

A
  1. Meiosis 2. Sexual reproduction 3. Main factor – MutationsAll can result in selection occuring
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is the hardy weinberg principle?

A

A mathematical equation used to calculate the frequencies of the alleles of a gene in a population

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

The hardy weinberg principle is a ______ analysis

A

statitical

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What does the hardy weinberg principle established what?

A
  • Establishes the frequency of the dominant and recessive alleles- Establishes the frequency of carriers (heterozygotes) in a population
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

The total frequency of alleles for a gene in a gene pool with only one dominant and recessive alleles will =

A

1 (100%)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

In the equation p+q = 1, what do p and q represent?

A

Dominant allele = pRecessive allele = q

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

The frequency that A combines with A in the zygote is

A

p x p = p2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

The frequency that a combines with a in the zygote is

A

q x q = q2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

The frequency that A combines with a in the zygote is

A

p x q = pq

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

The frequency that a combines with A in the zygote is

A

q x p = qp

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

P2 + 2pq + q2 =

A

1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What is p2?

A

the frequency/ number of individuals in that population that are homozygous dominant (AA)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is 2pq?

A

the frequency/number of individuals that are heterozygous (Aa or aA)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What is q2?

A

the frequency / number of individuals in that population that are homozygous recessive (aa)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

The Hardy Weinberg formulae is based on the principle that:

A

The proportion of dominant and recessive alleles of any gene in a population remains from one generation to the next

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Key conditions of The Hardy Weinberg formulae ?

A
  • No new mutations arise- The population is isolated (no gene flow / flow of alleles into or out of the population)- There is no selection bias- Population studied is large- Mating is random
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Why are the conditions in the hardy Weinberg principle important?

A
  • No new mutations arise – no introduction of new alleles- The population is isolated (no gene flow / flow of alleles into or out of the population) – movement encourages interbreeding which reduces genetic differences between populations- There is no selection bias – natural selection = advantageous alleles favoured- Population studied is large – prevents the effects of random events affecting allele frequencies or changes due to chance- Mating is random – prevents the selection of particular alleles, selective breeding would alter allele frequencies
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Null Hypothesis:

A

.There will be no significant difference between two sets of data

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Alternative Hypothesis:

A

.There will be a significant difference between two sets of data

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Statistical Testing –

A

a mechanism for making quantitative decisions about a process or processes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Chi-squared test used for?

A

comparing observed and expected values

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

What is the level of probability?

A

The level of probability that you can accept or reject your null hypothesis (significant or due to chance)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

What does you calculated chi squared value tell you?

A

Calculate a chi squared valueCompare your calculated value with a critical valueAt a 0.05 level of probability95% confidence the difference is significant5% probability it is due to chance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Degrees of Freedom, what are they with example

A

.The number of variables that are free to change.Calculated by number of categories (n) – 1.Example: 3 categories – 1 = degrees of freedom is 2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

How to analyse chi-squared results

A

.Conduct your statistical test = calculated chi squared value .Compare calculated chi squared and critical values.If your Chi squared value is higher than the critical value at 0.05 probability, reject the null hypothesis and the results are not due to chance.If your value is LESS, ACCEPT null hypothesis.If your value is GREATER, REJECT null hypothesis.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

What does Harry Robinson remind us?

A

Harry Robinson - HR - Higher Reject, for the chi test

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

What are the steps to a statistical analysis?

A
  1. Formulate a Null Hypothesis 2. Select the appropriate statistical test3. Carry out the calculation 4. Determine the degrees of freedom5. Compare your calculated value to the critical value calculated at 0.056. Compare the calculated value with the critical value: a) Higher than the critical value = difference is not due to chance = reject the null hypothesis b) Lower than the critical value = difference is likely due to chance = accept the null hypothesis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

What does a chi-squared test allow us to do?

A

.Identify significant differences between observed and expected results.Measure the degree of deviation between them.Determine if differences present between data sets (2+) are significant or due to chance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

When can we use the chi-squared test?

A

.Data is categorical Phenotypes i.e. eye colour, gender, location.The portion of numbers expected in each category is known.The number in each category is greater than 5

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Chi-squared test formula

A

Chi-squared = Sum ( (observed result – expected result)^2 / expected result)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

What does the funny E mean?

A

sum of

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

For the chi-squared test, what is ‘o’?

A

observed result

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

For the chi-squared test, what is ‘E’?

A

Excepted result

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

What does Chi Squared test allow us to do?

A

.Identify significant differences between observed and expected results.Measure the degree of deviation between them.Determine if differences present between data sets (2+) are significant or due to chance.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

What conditions must apply for the chi-square test?

A

.Data is categorical (e.g. Phenotypes i.e. eye colour, gender or location).The portion of numbers expected in each category is known.The number in each category is greater than 5

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

Chi squared test formula and meaning

A

χ^2=∑((O-E)^2/E)Σ Sum ofO Observed resultE Expected result

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

Step by step chi squared test

A
  1. Formulate a Null Hypothesis 2. Select the appropriate statistical test3. Carry out the calculation 4. Determine the degrees of freedom (n-1)5. Compare your calculated value to the critical value calculated at 0.056. Compare the calculated value with the critical value: 1. Higher than the critical value = difference is not due to chance = reject the null hypothesis2. Lower than the critical value = difference is likely due to chance = accept the null hypothesis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

Statistical Analysis Steps

A
  1. Formulate a Null Hypothesis 2. Select the appropriate statistical test3. Carry out the calculation 4. Determine the degrees of freedom5. Compare your calculated value to the critical value calculated at 0.056. Compare the calculated value with the critical value: a) Higher than the critical value = difference is not due to chance = reject the null hypothesis b) Lower than the critical value = difference is likely due to chance = accept the null hypothesis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

What is the HardyWeinberg Principle

A

The Hardy-Weinberg principle is a mathematical equation used to calculate the frequencies of the alleles of a gene in a population.Classed as a statistical analysis- Established the frequency of the dominant and recessive alleles- Established the frequency of carriers (heterozygotes) in a population

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

What principle is hardy-weinberg based on?

A

The proportion of dominant and recessive alleles of any gene in a population remains the same from one generation to the next

44
Q

What conditions is the hardy weinberg princple based on? Why are these important?

A
  • No new mutations arise, so no introduction of new alleles- The population is isolated, so no movement which encourages interbreeding which would reduce genetic differences between populations- There is no selection bias, natural selection = advantageous alleles favoured- Population studied is large, prevents the effects of random events affecting allele frequencies or changes due to chance- Mating is random, prevents the selection of particular alleles – selection breeding would alter allele frequencies
45
Q

Explain each part of the hardyweinberg principle

A

p = dominant alleleq = recessive allelep2 + 2pq + q2 = 1p2 is frequency of individuals that are homozygous dominant (AA)2pq is frequency of individuals that are heterozygous (Aa or aA)q2 is the frequency of individuals that are homozygous recessive (aa)1 = all the alleles present must add up to 1 or 100%

46
Q

Define Gene

A

A segment of a nucleic acid that carries the code for a particular polypeptide or fRNA

47
Q

Define locus

A

The location of a specific gene on a chromosome

48
Q

Define amino acid

A

Monomers which make up proteins, coded for by 3 nucleotides

49
Q

Define triplet

A

3 bases code for 1 amino acid

50
Q

Define genetic code

A

The sequence of bases on mRNA which codes for amino acids

51
Q

Define degenerate code

A

Base combinations that lead to the same amino acid

52
Q

Define non-overlapping

A

Each of the amino acids that are coded for are distinct from the bases of adjacent amino acid codes

53
Q

Define universal

A

The same in all living organisms and cells

54
Q

Define exons

A

A part of DNA which codes

55
Q

Define introns

A

A part of DNA which doesn’t code

56
Q

Define chromosomes

A

Structures found inside the nucleus which hold genetic information

57
Q

Define chromatid

A

One of the two strands of a chromosome, held together by the centromere, after DNA replication, before division

58
Q

Define histones

A

Proteins found in the nucleus of eukaryotes which DNA coils around

59
Q

Define allele

A

A version of a gene

60
Q

What are the rules for calculating inheritance?

A
  • Choose a letter to represent the trait you are investigating (B for blue eyes)- Choose letters that are different lower case and capitals (Gg not Ww)- Capital = dominant, lower case = recessive- Label parents and their phenotypes (parent 1 = brown eyes)- Label gametes the parents produce and circle them- Draw a Punnett square- Label the gender of each parent- Always write the dominant allele first- Work out the cross- State the phenotypes- Calculate the ration
61
Q

What is a monohybrid cross?

A

a cross in which the alleles of only one gene are involved- Inheritance of a single gene- Used to determine the dominance relationship between two alleles- The cross begins with the parental (P1 or P) generation

62
Q

What is always the expected ration when heterozygotes are crossed?

A

03:01

63
Q

In diploid organisms, characteristics are determined by alleles that occur in ____

A

pairs

64
Q

Only one of each pair of alleles can be present in a single _____ in diploid organisms

A

gamete

65
Q

What do dihybrid crosses do?

A
  • Consider the inheritance of two characteristics at the same time- Shows how two characteristics, determined by 2 different genes, located on different chromosomes, are inherited
66
Q

How did Mendel use Peas to investigate bihybrid inheritance?

A

Pea plants varied in two ways:1. Seed colour2. Seed shapeYellow and round = dominantGreen and wrinkled = recessiveSo there were 4 possible combinations:1. R and Y2. R and G3. W and Y4. W and GOr by genotype1. RY2. Ry3. rY4. ry1 and 4 are homozygous, dominant and recessive respectivelyHe bread these two to produce a plant with 100% chance of RrYy (heterozygous for both characteristics, so all round and yellow), Mendel then crossed these two overThat means there was a ratio of RY:Ry:rY:ry of 9:3:3:1

67
Q

what is Mendel’s Law of Independent Assortment –

A

Each member of a pair of allels may combaine randomlu with either of another pair

68
Q

The gene for colour and gene for shape are on ________ chromosomes

A

different

69
Q

WHat is codominance?

A

When both alleles are expressed in the phenotype- Neither allele is dominant nor recessive, they are both equally dominant

70
Q

Explain how snapdragons are an example of codominant alleles

A
  • One allele codes for an enzyme that catalyzes the synthesis of a red pigment in flowers- The other allele code for an altered version of the enzyme that doesn’t produce the red pigment – flowers remain white1. Homozygous for allele 1 – pigment produced – red flowers2. Homozygous for allele 2 – no enzyme activity so no pigment – white flowers3. Heterozygous – single functioning allele so only produces enough pigment to make the flowers pink
71
Q

Rules of codominant writing

A

We can’t use upper and lower case letters as this implies dominant/recessive- We use different letters insteado R = redo W = white- Letters should be superscript to the letter that represents the gene in question:o C = colour

72
Q

What are mutiple alleles with example

A
  • Multiple alleles have more than two alternate forms of a single gene, located at the same loci of homologous chromosomes- Polygenetic traits (eye colour) are determined by several genes at different gene loci- Multiple alleles are involved in the determination of a single train by codominance- E.g.o Human blood groupso 3 alleles associated with he immunoglobulin gene (gene I)o Gene I dictates the presence of a certain antigen on the cell surface of red blood cells
73
Q

The allele is I^A, what is the antigen produced, possible genotypes, blood group, and diagram?

A

A IAIA and IAIOAcheck notes

74
Q

The allele is I^B, what is the antigen produced, possible genotypes, blood group, and diagram?

A

B IBIB, IBIO BCheck notes

75
Q

The allele is I^O, what is the antigen produced, possible genotypes, blood group, and diagram?

A

Neither IOIO OCheck notes

76
Q

The allele is I^A I^B, what is the antigen produced, possible genotypes, blood group, and diagram?

A

A and BIAIBABCheck notes

77
Q
  • For red blood cells, there are 3 alleles, but only 2 can be present in an individual, why?
A
  • This is because there are only two homologous chromosomes, so only 2 gene loci
78
Q
  • IA and IB are codominant- IO is recessive to both- This gives rise to ___ possible blood groups
A

4

79
Q

Which are the blood groups, and which is the most common?

A

A, B, AB, OO is the most common – 48%

80
Q

If you have which antigen, your blood is positive?

A

Rhesus (Rh) D antigen

81
Q

Receiving blood from the wrong group can be life threatening, why? How can this be counteracted?

A
  • The antibodies will attack the cells- BUT- As group O red blood cells have no antigens, it can safely be given to any other group
82
Q

Explain the antibodies associated with each red blood cell type

A
  • A antigens on the red blood cells with anti-B antibodies in the plasma- B antigens with anti-A bodies in the plasma- O antigens but both anti-A and anti-B antibodies in the plasma- Both A and B antigens so no antibodies
83
Q

What is the difference between chromosomes and chromatids?

A

• Before replication, one chromosome is composed of one DNA molecule• Following replication, each chromosome is composed of two identical DNA molecules (i.e. DNA replication increases the amount of DNA but does not increase the number of chromosomes)• The two identical copies – each forming one half of the replicated chromosome – are called chromatids• During the later stages of cell division, these chromatids separate longitudinally to become individual chromosomes

84
Q

Desxribe the human Karyotype

A
  • 46 chromosomes- 23 pairs- 22 of the 23pairs have homoglous partners which are identical- 23rd pair are sex chromosomes (X and Y)
85
Q

Which of XX, and XY is male and femal?

A

XY – maleXX – female

86
Q

What is the ratio of offspring for reproduction of males and females? (in terms of x and y chromosomes)

A

Offspring – 2x XX, 2x XYPhenotype – 2x male, 2x femaleRatio – 1:1

87
Q
  • Genes found on either X or Y are _______
A

sex-linked

88
Q

Which is longer, x or y?

A

X

89
Q

Some genes found on x do not have a _______ on Y?

A

Homologous equivalent

90
Q
  • Recessive characteristics found on those people will be more frequent in men, why?
A

This is because they have no homologous series on Y that could carry the dominant allele

91
Q

What is hemophillia?

A
  • X-linked genetic disorder (defective gene on X)- Blood does not clot correctly- Leads to excess bleeding following a cut or persistent internal bleeding- Fatal if not treatedFatalities have selectively reduced the gene in the population to approximately 1 in 20,000
92
Q

Why is hemophillia rare in females?

A
  • Have two x chromosomes- Hemophiliac females used to die at the onset of puberty
93
Q

Is hemophilia recessive or dominant?

A

Recessive

94
Q

What does the recessive hemophilia allele code for?

A

codes for an alternative sequence which results in a faulty protein

95
Q

What do pedigree charts allow us to do?

A
  • Allow us to trace inheritance of sex-linked characteristics
96
Q

What are the main methods of identification?

A

Using a second, separate gene on the plasmid that is easily identifiable – 1. Resistant to an antibiotic2. Make a fluorescent protein3. Produce an enzyme whose action can be identified

97
Q

Explain autosomal linkages

A

When 2 or more genes are carried on the same autosome = autosomal linked• All linked genes stay together during meiosis• This means they will pass into the gamete together• Meaning they will pass into the offspring together• They do not follow Mendel’s Law of Independent Assortment as each allele is not free to mix with either allele from another pair

98
Q

Predict the genotypes of offspring of GgNn and GgNn if GN and gn are autosomal linked

A

GGNNGgNnGgNnggnn

99
Q

Which genetic cross has 3:1 ratio?

A

monohybrid two heterozygous

100
Q

Which genetic cross has 9:3:3:1 ratio?

A

dihybrid two heterozygous

101
Q

Which genetic cross has 1:1:1:1 ratio?

A

blood group (heterozygous A and B) or sex linkage (carrier female and normal male)

102
Q

Which genetic cross has 1:2:1 ratio?

A

Codominant heterozygous

103
Q

What does epi mean?

A

upon/over

104
Q

What is epistasis?

A
  • Epistasis describes a condition whereby one gene controls the expression of another gene- Or- When an allele of one gene affects or masks the expression of another in the phenotype
105
Q

Ratio for crossing over AaBb and AaBb where a dominant B means A works and a recessive bb means A doesnt work

A

09:04:03

106
Q

Explaination of epistemic genes

A
  • The expression of gene B affects the expression of gene A- bb = no melanin/white- If there is no melanin then gene A cannot be expressed- This means AA, Aa, and aa, will all produce white fur if bb is present- If B is present in the genotype, melanin is produced- If A and B are produced then melanin and banded are produced, so agouti- If B is found with aa, then melanin I produced but bands are not, black
107
Q

How does epistemic genes affect biochemical oathways

A
  • Some genes act in sequence by coding for specific enzymes in a pathway- Dominant alleles code for the functional form of the enzyme- Recessive homozygotes would disrupt the pathway- The presence of one non-functional gene will affect the other as failure to express one gene will result in no pigment being made