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Bio > Ch. 12: Genetics and Evolution > Flashcards

Ch. 12: Genetics and Evolution Flashcards

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1
Q

defn + func: genes

A

defn: DNA sequences that code for heritable traits that can be passed from one generation to the next

func: determine the physical and biochemical characteristics of every living organism

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2
Q

defn + func: chromosomes

A

defn: all genes (as well as a large supply of noncoding DNA) taken together and organized

func: to ensure that genetic material is passed easily to daughter cells during mitosis and meiosis

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3
Q

defn: alleles

A

alternative forms of genes

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4
Q

defn: genotype

A

the genetic combination possessed by an individual

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5
Q

defn: phenotype

A

the manifestation of a given genotype as an observable trait

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6
Q

defn: homologues

A

two copies of each chromosome

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7
Q

what is the one exception to homologus?

A

the sex chromosomes of genotypical males (one X chromosome, one Y chromosome)

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8
Q

defn + func: locus

A

defn: location on a specific chromosome

func: each gene has a particular locus which is consistent among human beings (so a gene can be described by its location)

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9
Q

why will a person inherit 2 alleles for all genes (except male sex chromosomes)?

A

because each chromosome is part of a homologous pair

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10
Q

what are alleles categorized based on?

A

their expression

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11
Q

defn + nomenclature: dominant

A

if only one copy of an allele is needed to express a given phenotype, the allele is dominant

represented with a capital letter

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12
Q

defn + nomenclature: recessive

A

if two copies of an allele are needed, the allele is recessive

represented with a lowercase letter

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12
Q

defn: homozygous vs. heterozygous genotype

A

if both alleles are the same for a given gene, the individual has a HOMOZYGOUS genotype

if the alleles are different for a given gene, the individual has a HETEROZYGOUS genotype

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13
Q

defn: hemizygous genotype

A

only one allele is present for a given gene (as is the case for parts of the X chromosome in genotypical males)

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14
Q

defn: complete dominance

A

only one dominant and one recessive allele exist for a given gene

the presence of one dominant allele will mask the recessive allele, if present

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15
Q

defn: codominance

A

when more than one dominant allele exists for a given gene (so if a person has both, they will express both simultaneously)

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16
Q

defn: incomplete dominance

A

occurs when a heterozygote expresses a phenotype that is intermediate between the two homozygous genotypes (i.e. red flower x white flower = pink flower)

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17
Q

defn: penetrance

A

the proportion of individuals in the population carrying the allele who actually express the phenotype

other words: the probability that, given a particular genotype, a person will express the phenotype

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18
Q

defn: full penetrance

A

100% of individuals with this allele will show the phenotype

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19
Q

defn: high penetrance

A

most (but not all) of those with the allele show the phenotype

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20
Q

what are the next 3 levels of penetrance below full and high?

A
  1. reduced
  2. low
  3. non
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21
Q

cause: Huntingon’s disease — is a classic example used to describe what

A

caused by an expansion of a repetitive sequence in the huntingtin gene

classic example of penetrance

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22
Q

defn: expressivity

A

varying phenotypes despite identical genotypes (the different manifestations of the same genotype across the population)

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23
Q

defn: constant expressivity

A

all individuals with a given genotype express the same phenotype

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24
Q

defn: variable expressivity

A

individuals with the same genotype may have different phenotypes

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25
Q

what are the 4 basic tenets of the modern interpretation of Mendel’s first law of segregation

A
  1. Genes exist in alternative forms (alleles)
  2. An organism has 2 alleles for each gene (one inherited from each parent)
  3. the 2 alleles segregate during meiosis, resulting in gametes that carry only one allele for any inherited trait
  4. If 2 alleles of an organism are different, only one will be fully expressed (dominant) and the other silent (recessive), unless there is codominance or incomplete dominance
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26
Q

defn: Mendel’s second law of independent assortment

A

the inheritance of one gene does not affect the inheritance of another gene

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27
Q

defn: centromere

A

the daughter DNA strand is held to the parent strand at the centromere

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28
Q

defn: sister chromatids

A

the daughter DNA strand and parent DNA strand together

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29
Q

when + how are tetrads formed + why are they called that?

A

when: during prophase I of meiosis

how: homologous chromosomes pair up to form them

name: 2 chromatids in each of 2 homologous chromosomes

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30
Q

defn + func: recombination

A

defn: small segments of genetic material are swapped between chromatids in homologous chromosomes, resulting in novel combinations of alleles that were not present in the original chromosomes

func: allows the inheritance of one gene to be independent of the inheritance of all others

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31
Q

what 2 things increase the genetic diversity of gametes and, subsequently, the genetic diversity of offspring?

A
  1. segregation of homologous chromosomes
  2. independent assortment of alleles
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32
Q

defn: gene pool

A

all of the alleles that exist within a species

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33
Q

what 2 things cause new genes to be introduced into the gene pool?

A
  1. mutations occur
  2. genetic leakage occur
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34
Q

why is genetic variability essential for the survival of a species?

A

it allows it to evolve to adapt to changing environmental stresses

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35
Q

defn: mutation

A

a change in DNA sequence

results in a mutant allele

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36
Q

defn + func: wild-type counterparts

A

alleles that are considered “normal” or “natural” and are ubiquitous in the study population

used to compare with mutant alleles

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37
Q

defn: mutagens

A

substances that can cause mutations

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38
Q

defn: transposons

A

elements that can insert and remove themselves from the genome

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39
Q

what happens if a transposon inserts itself in the middle of a coding sequence?

A

the mutation will disrupt the gene

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40
Q

defn: point mutations

A

occur when one nucleotide in DNA (A, C, T, or G) is swapped for another

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41
Q

what are 3 types of point mutations?

A
  1. silent
  2. missense
  3. nonsense
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42
Q

defn: silent vs. missense vs. nonsense mutations

A

SILENT = the change in nucleotide has no effect on the final protein synthesized from the gene

MISSENSE = the change in nucleotide results in substituting one amino acid for another in the final protein

NONSENSE = the change in nucleotide results in substituting a STOP codon for an amino acid in the final protein

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43
Q

when do silent mutations most commonly occur?

A

when the changed nucleotide is transcribed to be the third nucleotide in a codon because there is degeneracy (wobble) in the genetic code

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44
Q

defn: frameshift mutations

A

occur when nucleotides are inserted into or deleted from the genome

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45
Q

why can insertion or deletion of nucleotides shift the reading frame and what is the result of this?

A

why? because mRNA transcribed from DNA is always read in 3-letter sequences called codons

results in: either changes in the amino acid sequence or premature truncation of the protein (bc of a nonsense mutation)

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46
Q

what are the 2 categories of frameshift mutations?

A
  1. insertion
  2. deletion
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47
Q

defn: chromosomal mutations

A

larger-scale mutations in which large segments of DNA are affected

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48
Q

what are the 5 types of chromosomal mutations?

A
  1. deletion
  2. duplication
  3. inversion
  4. insertion
  5. translocation
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49
Q

defn: deletion mutations

A

occur when a large segment of DNA is lost from a chromosome

small deletion mutations are frameshift mutations

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50
Q

defn: duplication mutations

A

occur when a segment of DNA is copied multiple times in the genome

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51
Q

defn: inversion mutations

A

occur when a segment of DNA is reversed within the chromosome

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52
Q

defn: insertion mutations

A

occur when a segment of DNA is moved from one chromosome to another

small insertion mutations (including those where the inserted DNA is not from another chromosome) are frameshift mutations

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53
Q

defn: translocation mutations

A

occur when a segment of DNA from one chromosome is swapped with a segment of DNA from another chromosome

54
Q

defn: advantageous (mutation) + example

A

confer a positive selective advantage that may allow the organism to produce fitter offspring

example: heterozygotes for sickle cell disease (have minor symptoms and have natural resistance to malaria bc the red blood cells have a shorter lifespan)

55
Q

defn + example: deleterious (mutation)

A

detrimental

example: xeroderma pigmentosum (XP) = an inherited defect in the nucleotide excision repair mechanism –> DNA that has been damaged by UV radiation cannot be repaired right, so they are more likely to have cancer (esp. skin)

56
Q

defn: inborn errors of metabolism

A

an important class of deleterious mutations

deficiencies in genes required for metabolism

57
Q

what do children born with inborn errors of metabolism often need?

A

children need: very early intervention in order to prevent permanent damage from the buildup of metabolites in various pathways

58
Q

what is an example of an inborn error of metabolism?

A

phenylketonuria (PKU) = the enzyme phenylalanine hydrolase (which completes the metabolism of phenylalanine) is defective

without this enzyme, toxic metabolites of phenylalanine accumulate, causing seizures, cerebral function impairment, and learning disabilities, and a musty order

59
Q

what happens if phenylketonuria is discovered shortly after birth?

A

dietary phenylalanine can be eliminated and treatments can be administered to aid in metabolizing any remaining phenylalanine

60
Q

defn: genetic leakage

A

a flow of genes between species

61
Q

who can produced hybrid offspring?

A

individuals from different but closely related species

62
Q

why are many hybrid offspring not able to reproduce?

A

they have odd numbers of chromosomes

63
Q

in what situation would a hybrid be able to reproduce?

A

with members of one species or the other

the hybrid carries genes from both parent species, so this can result in a net flow of genes from one species to the other

64
Q

defn: genetic drift

A

the changes in the composition of the gene pool due to chance

65
Q

is genetic drift more pronounced in small or large populations?

A

small

66
Q

defn: the founder effect + what is a secondary possible impact?

A

a more extreme case of genetic drift in which a small population of a species finds itself in reproductive isolation from other populations as a result of natural barriers, catastrophic events, or other bottlenecks that drastically and suddenly reduce the size of the population available for breeding

inbreeding may occur because the breeding group is so small

67
Q

defn: inbreeding

A

mating between two genetically related individuals

68
Q

what does inbreeding encourage?

A

homozygosity, which increases the prevalence of both homozygous dominant and recessive genotypes

69
Q

what do genetic drift, the founder effect, and inbreeding have in common?

A

a reduction in genetic diversity (and often the reason why a small population may have increased prevalence of certain traits and diseases)

70
Q

defn: inbreeding depression

A

the loss of genetic variation may cause reduced fitness of the population

71
Q

defn + aka: out-breeding

A

aka: outcrossing

the introduction of unrelated individuals into a breeding group

72
Q

defn: biometric techniques

A

quantitative approaches to biological data

73
Q

defn: Punnett squares

A

diagrams that predict the relative genotypic and phenotypic frequencies that will result from the crossing of 2 individuals

74
Q

setup: Punnett squares

A

alleles of the two parents arranged on the top and side

genotypes of the progeny are the intersections of these alleles

genotypes of the progeny are the product of the two parental alleles

75
Q

defn: homozygous vs. heterozygous

A

HOMO = both copies of the allele are the same

HETERO = the copies of the allele are different

76
Q

defn: monohybrid

A

a cross in which only one trait is being studied

77
Q

defn: P generation

A

the parent generation

the individuals being crossed

78
Q

defn: F generation

A

filial

the offspring

79
Q

how are multiple generations denoted?

A

F generations with numeric subscripts (i.e. grandparents are P, parents are F1, we are F2)

80
Q

diagram: Punnett square of homozygous parents

A
81
Q

diagram: Punnett square of heterozygous parents

+ what is the distribution of genotypes and phenotypes (assuming complete dominance, and in theory, it is not always perfect)

A

1:2:1 genotypes (homozygous dominant:heterozygous dominant:homozygous recessive)

3:1 phenotypes (dominant:recessive)

82
Q

defn + func + aka: test cross

A

func: used to determine an unknown genotype

defn: the organism with an unknown genotype is crossed with an organism known to be homozygous recessive

aka: back cross

83
Q

results: test cross

A

100% offspring have dominant phenotype = the unknown genotype is likely to be homozygous dominant

1:1 distribution dominant to recessive phenotypes = the unknown genotype is likely heterozygous

84
Q

defn + func: dihybrid cross

A

extend a Punnett square to account for the inheritance of 2 different genes

85
Q

phenotypic ratios: dihybrid cross between 2 heterozygotes + what law does this reflect

A

9:3:3:1 (9 tall purple:3 tall white: 3 dwarf purple:1 dwarf white)

note that the 3:1 ratio holds within each trait (12 tall:4 dwarf and 12 purple:4 white)

reflects Mendel’s second law of independent assortment

86
Q

how are sex-linked traits expressed genotypically in men and women? what impact does this have?

A

FEMALES: have 2 X chromosomes and so may be heterozygous (carrier) or homozygous for a X-linked condition

MALES: only have one X chromosome and are hemizygous for many X-linked genes

this is why sex-linked traits are much more common in males as having only one recessive allele is sufficient for expression of the recessive phenotype

87
Q

mnemonic: X-linked

A

seX-linked is X-linked

Y-linked diseases exist, but are rare

assume sex-linked traits are recessive

88
Q

diagram: sex-linked cross

A
89
Q

for males with a sex-linked trait, what will their female offspring have? what will their male offspring have?

A

female offspring = carry the trait or express it

male offspring = neither express nor carry (unless the X chromosome in the egg contains the affected allele, in which case they will express it)

90
Q

the further apart two genes are, the MORE or LESS likely it is that there will be a point of crossing over between them?

A

MORE

91
Q

defn: chiasma

A

a point of crossing over

92
Q

defn + char: recombination frequency

A

the likelihood that 2 alleles are separated from each other during crossing over

roughly proportional to the distance between the genes on the chromosome

93
Q

relate the strength of linkage between genes to recombination frequency

A

TIGHTLY linked genes = close to 0 % recombo frequency

WEAKLY linked genes = close to 50% recombo frequency

94
Q

defn: genetic map

A

represents the relative distance between genes on a chromosome

can be constructed by analyzing recombination frequencies

95
Q

what does one map unit/one centimorgan correspond to on a genetic map? + example

A

a 1% change of recombination occurring between 2 genes

example: if 2 genes were 25 map units apart, we would expect 25% of the total gametes examined to show recombination somewhere between the 2 genes

96
Q

diagram: genetic maps from recombination frequencies

A

they are roughly additive

97
Q

defn: allele frequency

A

how often an allele appears in a population

98
Q

how does evolution relate to allele frequency?

A

evolution results from changes in the gene frequencies in reproducing populations over time

when the gene frequencies of a population are NOT changing, the gene pool is stable and evolution is NOT occuring

99
Q

5 mandatory criteria for the population to be at Hardy-Weinberg equilibrium

A
  1. the population is very large (no genetic drift)
  2. there are no mutations that affect the gene pool
  3. mating between individuals in the population is random (no sexual selection)
  4. there is no migration of individuals into or out of the population
  5. the genes in the population are all equally successful at being reproduced
100
Q

func + eqns: equations for Hardy-Weinberg equilibrium

+ meaning of the variables + meaning of the terms

A

used to predict the allelic and phenotypic frequencies

Let us define a particular gene as having only 2 possible alleles (T and t)

p = the frequency of the dominant allele T
q = the frequency of the recessive allele t

there are only 2 choices at the same gene locus so p + q = 1 (the combined allele frequencies of T and t must equal 100%)

p^2 = the frequency of TT (homozygous dominant genotype)

2pq = frequency of Tt (heterozygous dominant) genotype

q^2 = frequency of the tt (homozygous recessive) genotype

P^2 + 2pq = the frequency of the dominant phenotype (homozygous and heterozygous dominant genotypes)

101
Q

what do each of the Hardy-Weinberg equilibrium equations tell us individually?

A

first equation: tells us about the frequency of alleles in the population

second equation: tells us about the frequency of genotypes and phenotypes in the population

102
Q

why are there twice as many alleles as individuals in a population?

A

each individual has 2 autosomal copies of each gene

103
Q

how can Hardy-Weinberg equilibrium equations be used to demonstrate that evolution is NOT occurring in a population?

A

assuming that the earlier conditions are met, the allele frequencies will remain constant between generations

104
Q

defn + aka: natural selection

A

aka: survival of the fittest

the theory that certain characteristics or traits possessed by individuals within a species may help those individuals have greater reproductive success, thus passing on those traits to offspring

105
Q

what are the 3 basic tenets of natural selection?

A
  1. organisms produce offspring, few of which survive to reproductive maturity
  2. chance variations within individuals in a population may be heritable. if these variations give an organism even a slight survival advantage, it is favorable
  3. individuals with a greater preponderance of favorable variations are more likely to survive to reproductive age and produce offspring, which will increase these traits in future generations = this level of reproductive success = fitness
106
Q

what is an organism’s fitness directly related to?

A

the relative genetic contribution of this individual to the next generation

107
Q

defn + aka: modern synthesis model

A

aka: neo-Darwinism

adds knowledge of genetic inheritance and changes in the gene pool to Darwin’s original theory

108
Q

defn: differential reproduction

A

when mutation or recombination results in a change that is favorable to the organism’s reproductive success, that change is more likely to pass on to the next generation (the opposite is also true)

109
Q

are evolution and natural selection the same thing?

A

natural selection is a mechanism for evolution

110
Q

defn: inclusive fitness

A

a measure of an organism’s success in the population, based on the number of offspring, success in supporting offspring, and the ability of the offspring to then support others

111
Q

defn: theory of punctuated equilibrium

A

changes in some species occur in rapid bursts rather than evenly over time

112
Q

what are the 3 types of natural selection + diagram?

A
  1. stabilizing
  2. directional
  3. disruptive
113
Q

defn + example: stabilizing selection

A

keeps phenotypes within a specific range by selecting against extremes

example: human birth weight
- those who way too little may not survive
- those who way too much can have trauma during delivery + the more maternal resources it requires

114
Q

defn + example: directional selection

A

adaptive pressure can lead to the emergence and dominance of an initially extreme phenotype

example: if we have a heterogenous plate of bacteria, very few may have resistance to antibiotics

if the plate is treated with ampicillin, only those colonies that exhibit resistance to this antibiotic will survive

a new standard phenotype emerges as a result of differential survivorship

natural selection is the history of differential survivorship over time

115
Q

defn + example: disruptive selection

A

2 extreme phenotypes are selected over the norm

example: Galapagos finches all have either large or small beaks

116
Q

defn + func: polymorphisms

A

defn: naturally occurring differences in form between members of the same population (like light and dark coloration in the same species of butterfly)

func: facilitates disruptive selection

117
Q

defn + benefit + what favors this: adaptive radiation

A

describes the rapid rise of a number of different species from a common ancestor

benefit: allows for various species to occupy different niches

favored by: environmental changes or isolation of small groups of the ancestral species

118
Q

defn: niche

A

a specific environment, including habitat, available resources, and predators for which a species is specifically adaptive

119
Q

defn: species

A

the largest group of organisms capable of breeding to form fertile offspring

120
Q

defn: speciation

A

the formation of a new species through evolution

121
Q

what would happen if we took two populations from the same species and separated them geographically for a long period of time? what would happen if enough time passed?

A

different evolutionary pressures would lead to different adaptive changes

if enough time passes, the changes would be sufficient to lead to isolation

122
Q

impact: isolation

A

the progeny of the 2 populations can no longer freely interbreed and the two groups are now considered separate species

123
Q

what are the 2 ways that reproductive isolation can occur?

A
  1. prezygotically
  2. postzygotically
124
Q

defn: prezygotic vs. postzygotic mechanisms (of reproductive isolation)

A

PREZYGOTIC = prevent formation of the zygote completely

POSTZYGOTIC = allow for gamete fusion but yield nonviable or sterile offspring

125
Q

what are 5 examples of prezygotic mechanisms (of reproductive isolation)?

A
  1. TEMPORAL isolation (breed at different time)
  2. ECOLOGICAL isolation (live in different niches within the same territory)
  3. BEHAVIORAL isolation (a lack of attraction between members of 2 species due to differences in pheromones, courtship displays, etc.)
  4. REPRODUCTIVE isolation (incompatibility of reproductive anatomy)
  5. GAMETIC isolation (intercourse can occur, but fertilization cannot)
126
Q

what are 3 examples of postzygotic mechanisms (of reproductive isolation)?

A
  1. hybrid INVIABILITY (formation of a zygote that cannot develop to term)
  2. hybrid STERILITY (forming hybrid offspring that cannot reproduce)
  3. hybrid BREAKDOWN (form first-gen hybrid offspring that are viable and fertile, but second-gen hybrid offspring that are inviable or infertile)
127
Q

what are the 3 patterns of evolution + diagram

A
  1. divergent
  2. parallel
  3. convergent
128
Q

defn: divergent evolution

A

the independent development of dissimilar characteristics in two or more lineages sharing a common ancestor

they live in very different environments and adapted to different selection pressures while evolving

129
Q

defn: parallel evolution

A

the process whereby related species evolve in similar ways for a long period of time in response to analogous environmental selection pressures

130
Q

defn: convergent evolution

A

the independent development of similar characteristics in two or more lineages not sharing a recent common ancestor

131
Q

what is the rate of evolution measured by and related to?

A

measured by: the rate of change of a genotype over a period of time

related to: the severity of the evolutionary pressures on the species

132
Q

defn: molecular clock model

A

by comparing DNA sequences between different species, scientists can quantify the degree of similarity between two organisms

as species become more taxonomically distant, the proportion of the shared genome will decrease

the more similar the genomes, the more recently the two species separated from each other

correlate the degree of genomic similarity with the amount of time since 2 species split off from the same common ancestor

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