genetics exam 4 Flashcards

(48 cards)

1
Q

mutation where a single base pair is changed

A

point mutation

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2
Q

mutation where a large portion of chromosomes are affected

A

large scale mutation

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3
Q

mutation where pyrimidine ->pyrimidine or purine->purine

A

transitions

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4
Q

mutation where purine ->pyrimidine or vice versa

A

transversion

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5
Q

change in a reproductive cell, like an egg or sperm

A

germ line

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6
Q

a change in DNA that happens in any cell except reproductive cells

A

somatic

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7
Q

change in base produces same amino acid as before

A

silent mutations

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8
Q

a change in a gene’s DNA that replaces an amino acid with a different one

A

missense mutation

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9
Q

insertions and deletions, not multiple of 3 bases; DNA sequence is inserted or deleted by a number of nucleotides; shifts entire genome

A

frameshift mutation

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10
Q

the result is a shift of all genetic material because one base is added or removed, altering the entire genome

A

insertions or deletions

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11
Q

base change initiated a premature stop codon

A

nonsense mutation

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12
Q

mutations that occur naturally

A

spontaneous

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13
Q

mutations that are caused by exposure to external factors

A

induced

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14
Q

anything that induces a higher rate of mutation than the spontaneous rate of mutation

A

mutagen

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15
Q

mutagens such as x-rays, gamma rays, UV light

A

radiation

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16
Q

mutagen such as base analogs or intercalating agents

A

chemicals

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17
Q

mutagen such as viruses or bacteria

A

biological agents

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18
Q

mutations can be induced to identify genes that are involved in particular processes (ex: stickleback fish)

A

genetic dissection

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19
Q

molecular basis for spontaneous mutations here nitrogenous bases pair with atypical bases

A

tautomers

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20
Q

molecular bases for spontaneous mutations due to the splitting of repetitive DNA during replications

A

streisinger model for duplications and deletions

21
Q

loss of purine base from DNA strand

22
Q

conversion of cytosine to uracil

23
Q

molecular basis for induced mutations where ____ can pair with different bases depending on their chemical form

24
Q

molecular bases for induced mutations where ___ insert between adjacent bases and distort the structure of DNA

A

intercalating agents

25
induces pyrimidine dimers (covalent bonds between adjacent Ts)
UV light
26
produces highly reactive oxygen species that chemically alter DNA bases
ionizing radiation
27
what results from the disruption of the normal balance between cell proliferation and cell death and is essentially a disease of cell numbers
cancer
28
___ act as regulatory subunits that bind to and activate cyclin-dependent kinases, which then phosphorylate specific target proteins at different stages of the cell cycle, triggering the necessary transition between G1 to S or G2 to M
cyclin
29
___ activates the cyclin-dependent Rb protein, allowing for the transcription of genes necessary for DNA replication to proceed
Cyclin E pathway
30
how ___ stimulates cell proliferation; binds to its specific receptor on the cell membrane, which triggers a cascade of genes involved in cell division
insulin-like growth factor (IGF-I)
31
key step in initiating cell cycle progression; induces genes in the mitogen-activated protein kinase pathway
activation of intracellular signaling
32
programmed cell death, a cell self-destructs as part of normal biological function
apoptosis
33
1) increasing the activity of a growth-promoting protein 2) causing the protein to be produced in abnormally high quantities
mutations in oncogenes
34
recombination occurs during ___ where homologous chromosomes pair up and exchange genetic material through a process called crossing over
prophase I
35
inversions and translocations
chromosome rearrangements
36
deletions and duplications
nitrogenous base variations
37
genetic process where DNA strands can break at random locations on a chromosome, the broken pieces can then rejoin with segments from another chromosome
chromosomal translocation
38
crossover between repetitive DNA sequences that are found at different sited throughout the genome
unequal crossover
39
when 2 different chromosomes exchange pieces of genetic material with each other
reciprocal translocations
40
when the entire long arms of two acrocentric chromosomes fuse together, creating a single large chromosome
Robertsonian translocations
41
variation in the number of complete sets of chromosomes; monoploid, haploid, diploid, and polyploids
euploidy
42
individuals who do not have complete sets of chromosomes (missing or extra); nullisomic, monosomic, trisomic
aneuploidy
43
turner syndrome, klinefelter syndrome, downs syndrome, and Edwards syndrome
human aneuploids
44
study of genetic variation in populations and factors that cause changes in genetic variation
population genetics
45
___ is a measure of genetic variation in individuals and populations
heterozygosity
46
HW equilibrium applies when certain conditions are met;
large population size, random mating, no mutation, no migration, discrete generations, no selection
47
how ___ can change alleles and genotype frequencies by favoring individuals with certain advantageous alleles, allowing them to survive and reproduce more successfully
natural selection
48
conditions required for microevolution by natural selection
variation within a population, heritable traits, differential reproduction, time for traits to become prevalent