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HSCI 324 > Week 1 Sept 9 > Flashcards

Week 1 Sept 9 Flashcards

1
Q

Define microevolution. Are these processes repeatable and reversible, or creative and unique?

A

Individuals and populations (species and below) over a generational time scale (repeatable and reversible)

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2
Q

Define macroevolution. Are these processes repeatable and reversible, or creative and unique?

A

Species level and above over an evolutionary time scale (creative and unique)

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3
Q

A phylogenetic tree shows __________.

A

Relationships over time (common ancestors are not living, today)

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4
Q

If the time for life on earth were compared to height of the CN tower in Toronto, then humans would measure only ________

A

Around 1cm

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5
Q

What is denoted as the common ancestor for the homo genus?

A

Homo ergaster

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6
Q

Diploid

A

2n or copies of a genome

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7
Q

Haploid

A

N or one genome

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8
Q

Genome divided into

A

Chromosomal pieces

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9
Q

________ chromosomes = haploid

A

23

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10
Q

______ chromosomes = diploid

A

46

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11
Q

What happens in sexual dimorphism and reproduction?

A

Haploid gamete cells join to reproduce a diploid cell

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12
Q

Each human _________ is a single linear DNA molecule with a string of nucleotides that spell out _________ and other information

A
  • chromosome
  • genes
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13
Q

The total DNA in all the chromosomes of an organism is its _________

A

Genome

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14
Q

True or False?
A complete genome is nearly always found in every cell

A

True

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15
Q

Humans have 46 chromosomes that are in 23 pairs within ____________

A

A cell’s nucleus

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16
Q

What are pairs of chromosomes called?

A

Homologous chromosomes

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17
Q

What are autosomes?

A

The 22 pairs of chromosomes that control traits that do not relate to the gender of an individual

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18
Q

What are sex chromosomes?

A

The 1 pair of chromosomes that contains the genes that establish gender or sexual dimorphism

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19
Q

What are somatic cells? Are they diploid or haploid?

A

Body cells have 46 (2N) = diploid

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20
Q

What are germ cells? Are they diploid or haploid?

A

Sex cells or gametes have 23 (N) = haploid

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21
Q

Paternal gamete = _______

A

Sperm

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22
Q

Maternal gamete = ________

A

Ovum

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23
Q

True or False?
Mitochrondria have their own genome

A

True (mtDNA)

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24
Q

True or False?
Sperm contribute to mitochrondria

A

False

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25
Q

True or False?
Genes on the X chromosome determines the male sex

A

False (the Y chromosome)

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26
Q

True or False?
The Y chromosome lacks many genes normally found on the X chromosome

A

True (the Y chromosome is much smaller than the X chromosome and therefore lacks many genes compared to the X chromosome)

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27
Q

Mitosis

A
  • Growth and repair of cells
  • Occurs in body cells
  • 1 division
  • Results in 2 diploid genetically identical cells
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28
Q

Meiosis

A
  • Formation of gametes
  • Occurs in germ cells
  • 2 divisions
  • Results in 4 haploid genetically different cells
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29
Q

How many potential combinations of chromosomes does meiosis provide?

A

Maternal and paternal chromosomes get shuffled - 2^23 = 8,388,608 potential combinations

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30
Q

Meiosis provides 2 routes for increasing __________ in the next generation: __________ and ____________

A
  • Variation
  • Independent assortment
  • Crossing-over
31
Q

Define genotype

A

Specific allele combination that is related to a particular trait (or set of traits)

32
Q

Define homozygous

A

Diploid state carrying 2 identical alleles at a particular gene or locus

33
Q

Define heterozygous

A

Diploid state carrying 2 different alleles at a particular gene or locus

34
Q

Define phenotype

A

The physical or outward expression of the genotype, aka a trait

35
Q

Define mutation

A

Any heritable change in DNA sequence (excluding meiosis recombination)

36
Q

Define alleles

A

Alternate forms of a specific gene or locus

37
Q

Define dominant allele

A

A gene version that displays its phenotype when present as only 1 copy as in a heterozygote

38
Q

Define recessive allele

A

A gene version displays its phenotype only when present as 2 copies as in a homozygote

39
Q

Define wild type allele

A

A way to refer to a ‘normal’ allele or one not associated with a defect or disease trait

40
Q

Define rare allele

A

Typically, a frequency of <0.005%

41
Q

Define codominant or semidominant

A

Diploid with both alleles contributing to trait

42
Q

Define hemizygous

A

Diploid with only 1 allele (e.g. all male X chromosome alleles)

43
Q

Define haploinsufficiency

A

A situation where a single wild type allele is insufficient for normal function

44
Q

Define penetrance

A

The frequency with which a particular allele or genotype manifests a trait

45
Q

Define expressivity

A

The extent or magnitude of an expressed trait with a particular allele/genotype

46
Q

Define polygenic

A

Multiple genes contribute to a phenotype or trait

47
Q

Define pleiotropic

A

A single gene contributes to multiple traist

48
Q

Define sex linked

A

Traits that are determined by genes on the X or Y chromosome

49
Q

What are 4 evolutionary forces that cause change over time?

A
  1. Mutation (because of deletions/insertions in genome)
  2. Natural selection (more fit = reproduce)
  3. Genetic drift
  4. Gene flow (immigration, new alleles to new places)
50
Q

What are 4 types of mutations? (Big to small)

A
  1. Whole chromosomes - aneuploidy (gain or loss = trisomy or monosomy)
  2. Chromosome segments (inversions, translocations)
  3. Insertions/deletions
  4. Substitutions (typically confined to a change in a single bp)
51
Q

Define single nucleotide polymorphism (SNP)

A

Mutation of a single nucleotide or bp (can be substitution or indel)

52
Q

Define transition

A

Purine to purine and pyrimidine to pyrimidine

53
Q

Define transversion

A

Purine to pyrimidine and vice versa

54
Q

Define missense or non-synonymous

A

Substitution that alters amino acid coding

55
Q

Define synonymous

A

Substitution that does not alter amino acid coding

56
Q

Define nonsense

A

Substitution that introduces stop codon and truncates protein

57
Q

Define frameshift

A

Indel that results in a change in the reading frame (code is shifted)

58
Q

Define neutral

A

A mutation that does not obviously affect fitness or produce a phenotypic trait (selection forces do not apply to such mutations)

59
Q

What are the pyrimidines?

A

CT (very close in structure)

60
Q

What are the purines?

A

GA (very close in structure)

61
Q

The effect of natural selection depends on: ___________

A

Whether a trait is favoured in a particular local environment and it is easily modelled

62
Q

If we have 2 alleles (different version of gene), A and a, if the frequency of A is 1, what is the frequency of a?

A

0 (frequency must add to 1)

63
Q

Define balancing selection

A

This is a form of selection where the heterozygote is the most fit, which leads to a balance in allele frequencies (although AA is more fit than aa, it does not replace it - the final frequencies represent a balance)

64
Q

What are 2 key points of genetic drift?

A
  • It’s by chance
  • It’s faster in a small population (think of grabbing handful of smarties from large bowl and small bowl)
65
Q

Define genetic drift

A

The random chance in allele frequency from one generation to the next because of the basic probability (allele frequency may increase, decrease, or stay the same as a result of chance events during reproduction)

66
Q

When does gene flow occur?

A

When an individual from one population moves into another population

67
Q

2 major effects of gene flow on allele frequency

A
  1. New genes can be introduced into a population
  2. Gene flow between a pair of populations makes them increasingly more genetically similar over time because of the mixing of genes
68
Q

True or False?
The word population usually refers to the number of the entire species

A

False (it does not usually refer to the number of the entire species)

69
Q

What are 2 assumptions regarding mathematical modelling for population genetics?

A
  1. Random mating
  2. Non-overlapping generations
70
Q

True or False?
In sexual organisms, genotypes (2N) are transmitted from generation to generation

A

False (rather, alleles are transferred through haploid gametes (N): oocytes and sperm)

71
Q

Mating pairs mate at the same frequencies as __________

A

Random collisions between genotypes

72
Q

Non-random mating is also called __________

A

Assortative mating

73
Q

True or False?
1 breeding generation is present at any time

A

True

HSCI 324 (4 decks)

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