Lecture 2 Flashcards

(53 cards)

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
What are gene environment interactions
Traits influenced by both genes and the environment
26
What are linked traits
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
What is linkage disequilibrium
term coined to describe the non-random association between alleles of genetic loci that lie in proximity to each other
28
Darwin's theory of evolution and Mendel's studies of principles of inheritance led to...
modern synthetic theory of evolution - a way of formalizing and thinking mathematically modelling the processes and forces of evolution
29
What is an allele
alternative form of a gene for a given locus
30
What is a population
a group of potentially interbreeding individuals
31
What is gene pool
The entire set of alleles present in a population
32
What does equilibrium in hardy Weinberg equilibrium mean
no evolution - no change in allele frequencies in a population
33
What are the conditions for equilibrium
- no mutation - no gene flow - no ns - large population size - random mating
34
What are forces driving evolution
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
Selection acts on _______ but effects are seen at _________ level
individuals, population
36
What are different types of selection
1. disruptive 2. Stabilizing 3. Directional
37
What is disruptive selection
- Selection for small and large individuals - two peaks form
38
What is stabilizing selection
- selection for midsize individuals - peak gets narrower
39
What is directional selection
- selection for larger individuals - peak shifts
40
What is genetic drift
a random change in allele frequencies from one gen to the next based on "sampling" effect
41
What is an example of genetic drift
genetic bottlenecks
42
What is genetic bottlenecks and result
- population is reduced and then expands again - resulting pop may not have the diversity or frequency of initial population
43
example of genetic drift
founder effect
44
What is founder effect
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
Why disease causing genes are not eliminated by ns in monogenic disease
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
What are factors that can prevent HW equilibrium
- mating rules/sexual selection - small pops - geography - ns genetic drift - gene flow - mutation
47
What is balancing selection
favours a balance between alleles
48
example of balancing selection
sickle cell anemia
49
Why disease causing genes not eliminated in polygenic traits
- 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
Why disease causing genes not eliminated in pleiotropic traits
ex: testosterone
51
why within small regions people tend to look like each other and somewhat like people in neighbouring groups
- genetic similarities - similar environmental contexts - similar phenotypic expressions that change gradually in time and space, resulting in clines
52
What are clines
Geographical gradient in a particular trait across a species
53
How does race become biology
- using of simplistic conceptions of human biology - equating race to genetics - ignoring socioeconomic factors - minimizing role of lived experiences, marginalization, discrimination, and environmental exposures