midterm review Flashcards

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1
Q

define * Population Genetics

A

this branch of genetics uses knowledge of the rules of inheritance to predict how the genetic composition of a population will change under the forces of evolution and compares the predictions to relevant data

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2
Q

Define Epistasis

A

Epistasis: a phenomenon where the expression of one gene is modified: masked, inhibited, or suppressed, by the expression of one or more other genes

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3
Q

D Eugenics

A

Eugenics is the scientifically incorrect and immoral theory of racial improvement and planned breeding - theory that humans can be improved through selective breeding of populations

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4
Q

D Epigenetics

A

Epigenetics - study of how your behaviors and environment can cause changes to the functionality of your genes

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5
Q

D Balanced Polymorphism

A

A system of genes in which 2 alleles are maintained in stable equilibrium because the heterozygote is more fit than either of the homozygotes

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6
Q

Who are the leaders of the Modern Synthesis in the field of population genetics?

A

Main founders: Mendel, Galton, Darwin

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7
Q

3- Who are the leaders of classical Population genetics?

A

○ R.A Fisher
○ J.B.S Haldane
Sewall Wright

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8
Q

What was R. Fisher famous for?

A

Balanced polymorphism

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9
Q

What was J.B.S. Haldane famous for?

A

○ Genetic linkage in mammals
○ Suggested traits can be evolved by natural selection that are detrimental to the population
○ Specific population able to survive due to natural selection and adaptations

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10
Q

6- What was S. Wright famous for?

A

○ Founder of population genetics
○ The four major factors of evolution
○ Mutation: the author of variation
○ Natural selection: the editor
○ Genetic drift: the randomizer
○ Gene flow: the homogenizer

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11
Q

Describe probability

A

○ The probability of an event is the relative frequency of that event when the experiment is repeated a large number of times
○ The probability of an event is between 0 and 1
○ The sum of the probabilities of all possible outcomes of an experiment MUST equal 1
○ The probability that something will NOT OCCUR is 1 MINUS the probability that it will occur

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12
Q

different ways of calculating the probability

A

○ Law of addition
○ The probability that either of two events will occur is the sum of their individual probabilities
○ If A and B are mutually exclusive (cannot happen simultaneously)
- p(A or B) = P(A) + P(B)

Law of multiplication
the prob that both of two independent events will occur is the product of their individual probs
P(A AND B) = P(A) x P(B)

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13
Q

What does the Hardy-Weinberg equation solve?

A

○ Genotype frequencies if the population is not evolving

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14
Q

What does the Hardy-Weinberg equilibrium explain?

A

if evolution is occuring - if in HW, it is not

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15
Q

How would the relation between genotype frequencies be explained for a single locus with two alleles (on a graph)? look at it

A
  • Nonnlinear relationship between between allele frequencies and genotype frequencies
    ○ As p increases, the proportion of homozygous genotype AA increases geometrically, and the frequency of homozygous genotype aa decreases geometrically
    ○ The frequency of hetero increases as p increase to reach a max at p=0.5 after which the freq of heterozygotes decreases
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16
Q

. What are the assumptions of Hardy-Weinberg Equilibrium?
And what does equilibrium indicate?

A

■ Sexually reproducing species
- One male, one female
■ Each generation doesn’t overlap
- No one from current generation will not mate with next generation
■ Random mating
- Within same generation
■ No mutation
- No evolution/microevolution
■ No genetic drift
■ No natural selection
■ No gene flow
- Organisms are assumed do not move from one place to another

17
Q

When would you use the Chi-square?

A

○ To see how likely it is to get differences between expected and observed genotype numbers that large - if its stat sig

18
Q

How would the H-W-E equation differ for three alleles
compared to two?

A

(P + q + r) 2 = 1

19
Q

Define inbreeding.

A

○ inbreeding, the mating of individuals or organisms that are closely related through common ancestry

20
Q

Is inbreeding considered an evolutionary force? Explain your answer.

A

○ No, it increases homozygosity and decreases heterozygosity but does not really change anything generationally

21
Q

What does inbreeding affect (genotype or allele frequencies)? Explain.

A

○ Indirect effect on allele freq
○ Direct effect on genotypes - increases homo decreases hetero

22
Q

Give an example from the animal kingdom on the effect of inbreeding.

A

○ white tiger ex
Most white tigers are the result of inbreeding - lots of genetic issues

23
Q

Who described the inbreeding coefficient?

A

Wright

24
Q

. - Define the inbreeding coefficient.

A

A statistic to estimate the level of inbreeding - how to calculate the inbreeding coefficient

25
Q
    • Give examples from history about inbreeding.
A

○ King tut
Hapsburg family

26
Q
  • What is the difference between identity by descent and identity by state?
A

○ The probability that two alleles in an individual were both descended from a single allele in an ancestor (identical by descent IBD)
§ A measure of the level of inbreeding
§ Identity by descent - two alleles the same bc both inherited from a common ancestor (not always the case)
§ The coefficient is F
○ Identical by state - occurs when the identical alleles do not come from common ancestor, they just happen to be the same

27
Q

Define effective population size.

A

The breeding population size in an idealized population where a number of conditions (such as equal sex ratio and constancy in population size) apply

28
Q
  • Define fitness.
A

The probability of an individual with a given genotype surviving and reproducing

29
Q

Briefly describe the effect of inbreeding on dogs with examples.

A

○ Dogs have between 2-3% higher genetic load than grey wolves - pattern driven by poor natural selection/inbreeding
○ Also has to do with bottleneck
○ Still being studied
Small population size during domestication and strong artificial selection for breed-defining traits has unintentionally increased the number of deleterious genetic variants (inbreeding depression)

30
Q

english bulldog ex

A

○ English bulldog
○ Many large regions of the bulldog genome have been altered to change its appearance
○ Significant loss of variation
○ Loss of the genes that regulate immune responses
○ One of the most popular dog breeds - even as a purebred

31
Q

Define inbreeding depression

A
  • Inbreeding depression
    • The reduced survival and fertility of offspring of related individuals
    • The amount of inbreeding depression varies for different individuals, populations, and species
32
Q

Define genetic rescue

A

“introduction of beneficial variation from outside the population at
genes which are fixed for (or have a high frequency of) variants
causing inbreeding depression in the population”

33
Q

what is the word clinicians use when they refer to mutations to avoid incorrect assumptions of Pathogenicity?

A

§ clinicians are utilizing the word ‘variant’ to avoid the incorrect assumption of pathogenicity as a result of a change in a gene.
Not all mutations are associated with diseases

34
Q

State different types of mutations and explain each.

A
  • Point mutation:
    ○ Pyrimidine to pyrimidine or purine to purine (transition)
    ○ Pyrimidine to purine (transversion)
    ○ Silent mutations: result in the same amino acid
    ○ Nonsense- can be a truncated protein if the code is changed to a stop codon
    ○ Missense - the substitution of the base pair results in a different amino acid
    § Conservative: no change in the function
    § Non-conservative: change in the function
    * Frameshift mutations:
    ○ Insertions and deletions (indel)
    ○ Causes a shift in the whole reading frame for producing a specific protein
    • Chromosomal mutations:
      ○ When a whole segment is deleted, translocated, duplicated, or inverted
35
Q

Why would species vary in their rate of molecular evolution?

A

Molecular evolution can vary depending on species body size, pop dynamics, lifestyles, and locations

36
Q

State three points regarding mutations (including how important they are, where they need to be to pass to the next generation, and whether they are random concerning evolutionary significance?)

A

○ Mutations occur at random
○ Have to occur in germline/gametes to be passed down
○ Create variety - can be an evolutionary force, main force for genetic variation

37
Q

5- What are neutral mutations?

A

○ A mutation whose fixation is independent of natural selection is termed a neutral mutation. Therefore selective neutrality of a mutation can be defined by independence of its fixation from natural selection.
mutations in which natural selection does not affect the spread of the mutation in a species are termed neutral mutations.

38
Q
  • What is the difference between germline mutations and somatic mutations?
A

○ Germline mutations- occur in gametes, passed down genetically
Somatic mutations - occur in somatic cells and not passed on to offspring