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genetics > Lecture 8 > Flashcards

Lecture 8 Flashcards

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Biology 101 flashcards
1
Q

cancer

A

a build up of many mutations
-the longer you live the more you mutate therefore increasing your risk of cancer

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2
Q

oncogene active

A

can mutate the p53 gene which will lead to the mutated growth of malignant tumors

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3
Q

mutations in a person affect the next generation true or false

A

false because the mutations in their body cells only affect them

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4
Q

mutations in sperm or eggs affect the next generation true or false

A

true because if the mutation is in the egg or sperm it will get passed down to the offspring

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5
Q

why do male make more mutations

A

because they make more sperm than females make eggs
-men have a high chance for autism and schitzophrenia

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6
Q

point mutation

A

one base is affected
-one change in nucleotide (nucleotide substitution) or an indel (insertion or deletion and not silent)

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7
Q

a silent mutation

A

-can be a point mutation
-does not change the amino acid being encoded

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8
Q

why do point mutations not cause a change in the amino acid

A

because the genetic code is redundant and therefore a single change does not necessarily change the aa being encoded because there are many base sequences encoding for the same aa

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9
Q

missence mutation

A

a change in the DNA that results in a change in the amino acid being encoded
-can result from nucleotide substition, indel etc

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10
Q

inversion

A

dna turned backwards

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11
Q

nonsense

A

base is converted into a stop codon
-results in a truncated protein

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12
Q

promotor

A

turns on a gene
-RNA pol binding site
-a mutation here is outside the coding sequence

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13
Q

termination signal mutation

A

-this signal will stop RNA synthesis
-this mutation is outside the coding sequence

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14
Q

splice donor and acceptor mutation

A

causes a misprocessing of RNA
-mutation outside the coding sequence

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15
Q

ribosome binding site mutation

A

turns the binding site into a 5 prime untranslated region where the ribosome will not be able to recognize it
-this is outside the coding sequence

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16
Q

chromosome rearrangement

A

-not genetic mutation bc it is not on the coding sequence or
-three types: translocation, deletion and duplication
-this happens to the whole chromosome

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17
Q

transition

A

-a point mutation that can be silence or missence where a purine (two ring A or G) is converted to a pyrimidine (C or T) or vice versa
-change base with a base of similar shape
-a type of nucleotide substitution
-stay on the same road but change lanes
-this will not change the base pair is A becomes T or C becomes G
-the base on the lagging strand will change in response to become a base pair match

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18
Q

transversion

A

-changing a purine (AG) for a purine or a prymidine (CT) for a prymidine
-a type of nucloetide substitution
-this will change the base pair

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19
Q

what mutation causes sickle cell anemia

A

a missense mutation that makes lys become glu

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20
Q

giesma stain

A

stains DNA so you can karyotype it

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21
Q

nondisjunction

A

mispackaging of chromosomes during gamete production
-one gamete will get no chromosomes
-if nondisjunction has a female it will die (XXX)
-XXY can live
-happens in meiosis 1 or 2

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22
Q

Indel

A

can shift frame of coding region messing up the amino acid after it resulting in a truncated protein or missense (useless)
-causes ribosome to make the wrong amino acid because of the frame shift

23
Q

what does nondisjunction create?

A

aneuploidy= abnormal chromosomes
-monozomic or trisonomic (cause of trisonomy)

24
Q

polyploidy

A

2 or more complete sets of chromosomes
-this is more likley than aneuploidy
-tri can happen in humans
-tetra can lead to a new species (plants)

25
Q

will chromosome rearrangment affect the chromosome number

A

no

26
Q

if female gives an xx egg from nondisjunction what happens when it gets w sperm

A

if the sperm donates an x the egg dies if a sperm donates a y it can live
-females from nondisjunction only survive if the femal gives a 0 egg and the X comes from the sperm

27
Q

XO nondisjunction in humans

A

causes Turner syndrome
-sterile

28
Q

XXY in human

A

kleinfel syndrom
-sterile

29
Q

autosome nondisjunction

A

-disjunction that does not involve the sex chromosomes
-ex: down syndrome from an extra chromosome 21 (47n)
-the older the mother the more likely this is because as you age you have less control over meiosis

30
Q

change in chromosome banding patterns

A

-deletion, duplication, inversion and translocation (chromosomal rearrangement so it is a mutation outside of the coding sequence)
-these mutations will effect how genes are expressed in the coding sequence)

31
Q

deletion

A

removing a chunk of chromosome

32
Q

duplication

A

duplicating a chunk of chormosome
-inversion

33
Q

inversion

A

entire chunk is reversed

34
Q

translocation

A

a chunk is taken from one chromosome to another

35
Q

what causes an indel mutation

A

-looping out of the strand during replication causing polymerase to skip bases on the templet (deletion)
-looping out of daughter causes polymerase to put extra base on daughter and when it is elongated it is too long

36
Q

substitution is caused by?

A

DNA pol making a mistake
-this may cause a buldge in the backbone bc the bases on the strand don’t fit together
-this misincorporation can affect and pass on to offspring
-can also be caused by base tautomeric forms

37
Q

tautomeric forms

A

same base but different H bond pattern
ex: A is normally NH2 but tautomeric will be NH and NH
-this changes the acceptor and donator characteristics of the base cause pol to give it the wrong base
ex: A prime (tautomeric) will not fit with C and not T= mismatch

38
Q

how does dna differentiate btwn daughter and template

A

template adenine gets methylated before daughter so this lets DNA pol identify daughter and find mistakes in prokaryotes bc they are circular
-maybe eukaryotes use the gaps in the daughter strands

38
Q

can DNA fix a buldge

A

yes by activating 3 to 5 exonuclease that will go backward on the strand and fix the mistake

38
Q

MUTS

A

will bind to the mismatch on both strands/ binds to the buldge
-has the error and therefore lets pol know the template is the outerstrand

38
Q

MUTH and L

A

bind to the daughter strand
-forms tertiary complex with MUTS when the fold over creating a loop

39
Q

exonuclease

A

is the pacman that will chew up the error on the inner daughter strand letting DNA pol remake that chunk fo daughter

40
Q

spontaneous deanimation

A

cytosine becomes uracil because it looses NH2 for an oxygen
-this causes an A to go on the opposite lagging strand

41
Q

How is spontaneous deanimation corrected

A

dna glycosidase finds the uracil and removes it by flipping out the DNA and removing it
-this leaves an abasic site that can be chewed up by abasic specific endonuclease
-pol then makes it again

42
Q

base modification chemicals

A

chance DNA base by giving mutations to daughter
ex: nitrous acids in food will turn C to G and G to T

43
Q

Hydroxylamine

A

adds hydroxyl to DNA base to cause misincorporatio
-changes C to G on template so the daughter strand gets a C and not a G

44
Q

alkanating bases

A

add alkyl groups to cause misoncorporation

45
Q

intercalators

A

insert intercalates between bases on the DNA which causes a change in shape causes pol to miss bases which leads to indels

46
Q

AMES

A

test to detect mutagens
ex: salmonella will not grow without histidine media and rat liver broth w a mutagen. A plate without the mutagen will have minimal growth which proves that the mutagen can grow w out histidine)
-point of the test is to look for mutation that increase the cells ability to grow without histidine

47
Q

radiation/ x ray

A

ions causing breaks in the double strand that can also cause translocations to other chromosomes
-fix by: non homologous end joining (join broken ends) or homologous recombination (recombine broken chromosome with the other parents non broke chromosome)

48
Q

why are some bacteria resistant to radiation

A

because they have many homologous machinery enzymes to fix breaks

49
Q

UV

A

-nonionizing radiation that doesn’t break double strands it just causes covalent dimerization
-dimerization changes shape, ridgidity and ability to detect mistakes
-fixed by UVr pathway

50
Q

how is UV damage fixed

A

-UVAB finds thiamine dimer
_UVRB and UVRC make a complex that cuts the side of the dimer on the defective strand
-DNA pol will fill gap
-ligase will seal it

51
Q

mutates DNA repair enzymes can increase what?

A

risk of cancer because you cant fix DNA mutations well

genetics (16 decks)

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