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Genetics > Block 5 > Flashcards

Block 5 Flashcards

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Biology 101 flashcards
1
Q

what is the basic structural packaging unit

A

chromatin

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2
Q

histones are rich in what 2 amino acids

A

lysine and arginine

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3
Q

histones are rich in lysine and arginine which are what type of amino acids

A

positive charged

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4
Q

acetylation occurs only on what amino acid residues of histones

A

lysine

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5
Q

ubiquitination occurs only on what amino acid residues of histones

A

lysine

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6
Q

methylation occurs on what amino acid residues of histones

A

lysine
arginine

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7
Q

methylation can occur at what spot of DNA

A

CpG islands

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8
Q

all prokaryotic DNA polymerases an perform proofreading in the __-__, __direction

(3-5 or 5-3, exo or endonuclease)

A

3’-5’
exonuclease

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9
Q

what is the only prokaryotic DNA polymerase that has 5’-3’ exonuclease activity

A

DNA poly I

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10
Q

in prokaryotes, DNA polymerase I removes RNA primers and replaces them with DNA. what enzyme does this in eukaryotes

A

DNA poly delta

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11
Q

DNA ligase creates what kind of bonds

A

phosphodiester

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12
Q

what enzyme of DNA transcription has reverse transcriptase activity

A

telomerase

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13
Q

do cancer cells have increased or decreased telomerase activity

A

increased

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14
Q

what DNA polymerase replicates mitochondrial DNA

A

delta

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15
Q

depurination results in loss of what

A

purine bases (guanine and adenine)

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16
Q

deamination results in loss of what

A

cytosine

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17
Q

adenine and guanine can undergo spontaneous deamination to become __ and __

A

adenine->hypoxanthine
guanine->xanthine

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18
Q

cytosine can undergo spontaneous deamination to become __

A

uracil

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19
Q

what do DNA glycosylases do

A

remove damaged DNA bases

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20
Q

AP endonucleases are focused on the __ end
AP lyases are focuses on the __ end

A

AP endonucleases= 5’
AP lyases= 3’

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21
Q

UV light results in the joining of adjacent purines or pyrimidines
which is the most common base

A

pyrimidines
thymine

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22
Q

what stage of the cell cycle does nucleotide excision repair occur

A

G1

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23
Q

what enzyme removes nucleotides in nucleotide excision repair

A

endonucleases

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24
Q

what type of inheritance is xeroderma pigmentosum

A

autosomal recessive

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25
Q

what occurs with xeroderma pigmentosum

A

deficiency in nucleotide excision repair–> photosensitivity

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26
Q

where in the cell cycle does mismatch repair occur

A

G2

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27
Q

microsatellite instability has to do with what DNA system

A

mismatch repair

28
Q

what occurs in homologous recombination

A

a strand from damaged dsDNA is repaired using a complementary strand from intact homologous dsDNA as a template

29
Q

defective homologous recombination mutation in __ or __ can lead to breast/ovarian cancer

A

BRCA1 or BRCA2

30
Q

what is the defect in fanconi anemia

A

homologous recombination
DNA repair enzymes

31
Q

what causes ataxia telangiectasia

A

nonhomologous end joining defect

32
Q

a mutation in what gene causes ataxia telangiectasia

A

ATM

33
Q

ataxia telangiectasia is due to a defect of the ATM gene on what chromosome number

A

11

34
Q

sickle cell anemia is caused by what type of mutation

A

missense

35
Q

sickle cell anemia occurs due to a single base substitution at the __ (what number codon) of the __ gene

A

6th
beta

36
Q

what is the change in bases that occurs with sickle cell anemia

A

adenine–>thymine (GAG–>GTG)

37
Q

what is the substitution that occurs in HbS

A

glutamate—>valine

38
Q

the amino acid substitution seen in HbS of valine to glutamate results in what type of interactions

A

hydrophobic

39
Q

cystic fibrosis is caused by what mutation

A

deletion of phenylalanine at position 508

40
Q

as a result of the cystic fibrosis mutation, what posttranslational modification is altered

A

glycosylation

41
Q

frameshift mutations are evident when there is an insertion or deletion of ___

A

a non multiple of 3

42
Q

tay sachs and duchenne muscular dystrophy occur due to what type of mutation

A

frameshift

43
Q

what are 4 examples of trinucleotide repeat disorders

A

fragile X
friedreich’s ataxia
huntingtons
mytonic dystrophy

44
Q

fragile X occurs due to a trinucleotide repeat of __

A

CGG

45
Q

fragile X leads to hyper___

A

hypermethylation

46
Q

what are the main symptoms of fragile X

A

developmental delay
autism
attention deficit hyperactivity disorder

47
Q

tRNA is synthesized by what enzyme

A

RNA polymerase III

48
Q

what is the sequence at the 3’ end of tRNA that allows it to be used as a recognition sequence of proteins

A

CCA

49
Q

what end, 5’ or 3’, is used as the amino acid binding site

A

3’

50
Q

what enzyme loads the amino acid onto the 3’ terminal hydroxyl group of tRNA

A

aminoacyl tRNA synthetase

51
Q

what is the function of small nuclear RNA (snRNA)

A

splicing of pre-mRNA

52
Q

what is the main enzyme involved in synthesis of mRNA

A

RNA polymerase II

53
Q

how does alpha amanitin act as a toxin

A

inhibits RNA polymerase II

54
Q

what is the function of DNA enhancers

A

increase the rate of transcription

55
Q

is the addition of a 7-methylguanosine cap a post-transcriptional or post-translational modification

A

post-transcriptional

56
Q

snRNPs have a high content of __

A

uridine

57
Q

anti-sm antibodies against __ are seen in patients with __

A

snRNPs
lupus

58
Q

what 2 components make up a spliceosome

A

snRNP
mRNA

59
Q

does alternative splicing occur in post-transcriptional or post-translational modification

A

post-transcriptional

60
Q

where does translation occur

A

in cytosol on ribosomes

61
Q

a mutation in the 16S subunit will affect what part of protein synthesis

A

initiation

62
Q

in prokaryotes, __S acts as a peptidyl transferase and in eukaryotes, __S acts as a peptidyl transferase

A

prokaryotes- 23S
eukaryotes- 28S

63
Q

are eF1 and Ef2 part of transcription or translation

A

translation

64
Q

how does the anti-bacterial drug chloramphenicol work

A

inhibits peptidyltransferase

65
Q

what type of mutation causes HbC

A

missense

66
Q

cru di chat is an example of what type of mutation

A

large segment deletion

Genetics (4 decks)

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