genetics exam 4 Flashcards

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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

A

depurination

22
Q

conversion of cytosine to uracil

A

deamination

23
Q

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

A

base analogs

24
Q

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

A

intercalating agents

25
Q

induces pyrimidine dimers (covalent bonds between adjacent Ts)

A

UV light

26
Q

produces highly reactive oxygen species that chemically alter DNA bases

A

ionizing radiation

27
Q

what results from the disruption of the normal balance between cell proliferation and cell death and is essentially a disease of cell numbers

A

cancer

28
Q

___ 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

A

cyclin

29
Q

___ activates the cyclin-dependent Rb protein, allowing for the transcription of genes necessary for DNA replication to proceed

A

Cyclin E pathway

30
Q

how ___ stimulates cell proliferation; binds to its specific receptor on the cell membrane, which triggers a cascade of genes involved in cell division

A

insulin-like growth factor (IGF-I)

31
Q

key step in initiating cell cycle progression; induces genes in the mitogen-activated protein kinase pathway

A

activation of intracellular signaling

32
Q

programmed cell death, a cell self-destructs as part of normal biological function

A

apoptosis

33
Q

1) increasing the activity of a growth-promoting protein 2) causing the protein to be produced in abnormally high quantities

A

mutations in oncogenes

34
Q

recombination occurs during ___ where homologous chromosomes pair up and exchange genetic material through a process called crossing over

A

prophase I

35
Q

inversions and translocations

A

chromosome rearrangements

36
Q

deletions and duplications

A

nitrogenous base variations

37
Q

genetic process where DNA strands can break at random locations on a chromosome, the broken pieces can then rejoin with segments from another chromosome

A

chromosomal translocation

38
Q

crossover between repetitive DNA sequences that are found at different sited throughout the genome

A

unequal crossover

39
Q

when 2 different chromosomes exchange pieces of genetic material with each other

A

reciprocal translocations

40
Q

when the entire long arms of two acrocentric chromosomes fuse together, creating a single large chromosome

A

Robertsonian translocations

41
Q

variation in the number of complete sets of chromosomes; monoploid, haploid, diploid, and polyploids

A

euploidy

42
Q

individuals who do not have complete sets of chromosomes (missing or extra); nullisomic, monosomic, trisomic

A

aneuploidy

43
Q

turner syndrome, klinefelter syndrome, downs syndrome, and Edwards syndrome

A

human aneuploids

44
Q

study of genetic variation in populations and factors that cause changes in genetic variation

A

population genetics

45
Q

___ is a measure of genetic variation in individuals and populations

A

heterozygosity

46
Q

HW equilibrium applies when certain conditions are met;

A

large population size, random mating, no mutation, no migration, discrete generations, no selection

47
Q

how ___ can change alleles and genotype frequencies by favoring individuals with certain advantageous alleles, allowing them to survive and reproduce more successfully

A

natural selection

48
Q

conditions required for microevolution by natural selection

A

variation within a population, heritable traits, differential reproduction, time for traits to become prevalent