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216 > Lecture 2 > Flashcards

Lecture 2 Flashcards

1
Q

What is evolution

A

change in allele frequencies in a pop over time

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2
Q

What is evolution based on

A

heredity

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3
Q

What is hereditary

A

transmission of genetic info from one gen to the next

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4
Q

How can genetic info be transferred between people

A

meiosis (gametogenesis) -> sex cells

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5
Q

How can genetic information can be transferred between cells

A

mitosis

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6
Q

What are sources of variation

A
  • mutation
  • meiosis
  • sex
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7
Q

Why is meiosis a source of variation

A
  1. recombination during prophase 1, exchange of portions of DNA btw homologous chromosomes
  2. separation of homologous chromosome pairs into different gametes
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8
Q

how much can recombination increase the number of possible genetic combinations

A

10 billion times

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9
Q

What is the result of meiosis

A

haploid gametes

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10
Q

What partly explains the phenotypic variability in anatomy and physiology

A

genetic variability

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11
Q

How many nucleotide base pairs in haploid human genome

A

3.2 billion

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12
Q

How many nucleotide bases are exactly the same in all humans

A

99.5%

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13
Q

How many nucleotide bases are identical between humans and chimps

A

98.8%

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14
Q

What are exons

A

translated into final mature RNA

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15
Q

What are introns

A

not translated into RNA but important for gene expression

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16
Q

What is a single nucleotide polymorphism and its relevance

A

depends on where it falls and whether or not it is synonymous with the original SNP

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17
Q

Some sections of DNA originally considered intergenic “junk” are now known to have roles as….

A

promoters and regulators, enhancers, spacers, and centromeres

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18
Q

Who is Mendel

A

Theory of Particulate Inheritance

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19
Q

What is needed for plants to be bred true for some traits

A

plants are homozygous for those traits

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20
Q

What were Mendel’s conclusions

A
  • members of each pair of factors that control for the expression of each trait separated into different haploid gametes
  • traits are inherited independently
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21
Q

What is phenotype

A

the outward manifestation of an individual’s genotype

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22
Q

What is genotype

A

The genetic configuration of the individual

23
Q

What are polygenic traits

A

traits affected by more than one gene

24
Q

What are pleiotropic genes

A

Genes that affect more than one trait

25
Q

What are gene environment interactions

A

Traits influenced by both genes and the environment

26
Q

What are linked traits

A

genes that are closely located on a chromosome
- don’t separate independently
- don’t follow a mendelian pattern of inheritance
-> linkage disequilibrium
- have a low recombination rate

27
Q

What is linkage disequilibrium

A

term coined to describe the non-random association between alleles of genetic loci that lie in proximity to each other

28
Q

Darwin’s theory of evolution and Mendel’s studies of principles of inheritance led to…

A

modern synthetic theory of evolution

  • a way of formalizing and thinking mathematically modelling the processes and forces of evolution
29
Q

What is an allele

A

alternative form of a gene for a given locus

30
Q

What is a population

A

a group of potentially interbreeding individuals

31
Q

What is gene pool

A

The entire set of alleles present in a population

32
Q

What does equilibrium in hardy Weinberg equilibrium mean

A

no evolution - no change in allele frequencies in a population

33
Q

What are the conditions for equilibrium

A
  • no mutation
  • no gene flow
  • no ns
  • large population size
  • random mating
34
Q

What are forces driving evolution

A
  1. ns and genetic drift
    - reduces or redistributes variation at pop level
  2. non random mating
    - redistributes variation at population level
  3. gene flow
    - introduces or redistributes variation at population level
35
Q

Selection acts on _______ but effects are seen at _________ level

A

individuals, population

36
Q

What are different types of selection

A
  1. disruptive
  2. Stabilizing
  3. Directional
37
Q

What is disruptive selection

A
  • Selection for small and large individuals
  • two peaks form
38
Q

What is stabilizing selection

A
  • selection for midsize individuals
  • peak gets narrower
39
Q

What is directional selection

A
  • selection for larger individuals
  • peak shifts
40
Q

What is genetic drift

A

a random change in allele frequencies from one gen to the next based on “sampling” effect

41
Q

What is an example of genetic drift

A

genetic bottlenecks

42
Q

What is genetic bottlenecks and result

A
  • population is reduced and then expands again
  • resulting pop may not have the diversity or frequency of initial population
43
Q

example of genetic drift

A

founder effect

44
Q

What is founder effect

A

small subset of a larger population colonizes a new area but said subset is not representative of the allele frequencies present in parent population

45
Q

Why disease causing genes are not eliminated by ns in monogenic disease

A
  1. monogenic disease (single genes)
    - maintained by recurrent mutations
    - deleterious effects post reproductive
    - deleterious effects tend to only expressed in homozygous and/or provide advantage in heterozygous
  • some alleles confer different advantages and disadvantages
  • heterozygous advantage
  • frequency dependent selection
  • unstable environments
46
Q

What are factors that can prevent HW equilibrium

A
  • mating rules/sexual selection
  • small pops
  • geography
  • ns
    genetic drift
  • gene flow
  • mutation
47
Q

What is balancing selection

A

favours a balance between alleles

48
Q

example of balancing selection

A

sickle cell anemia

49
Q

Why disease causing genes not eliminated in polygenic traits

A
  • common diseases depending on various genes each associated with an increase in the risk for the disease
  • some cases disease results from specific combination of particular alleles
  • or specific alleles in particular environment
50
Q

Why disease causing genes not eliminated in pleiotropic traits

A

ex: testosterone

51
Q

why within small regions people tend to look like each other and somewhat like people in neighbouring groups

A
  • genetic similarities
  • similar environmental contexts
  • similar phenotypic expressions that change gradually in time and space, resulting in clines
52
Q

What are clines

A

Geographical gradient in a particular trait across a species

53
Q

How does race become biology

A
  • using of simplistic conceptions of human biology
  • equating race to genetics
  • ignoring socioeconomic factors
  • minimizing role of lived experiences, marginalization, discrimination, and environmental exposures

216 (8 decks)

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