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Genetics > Block 5 > Flashcards

Block 5 Flashcards

(66 cards)

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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
what occurs with xeroderma pigmentosum
deficiency in nucleotide excision repair--> photosensitivity
26
where in the cell cycle does mismatch repair occur
G2
27
microsatellite instability has to do with what DNA system
mismatch repair
28
what occurs in homologous recombination
a strand from damaged dsDNA is repaired using a complementary strand from intact homologous dsDNA as a template
29
defective homologous recombination mutation in __ or __ can lead to breast/ovarian cancer
BRCA1 or BRCA2
30
what is the defect in fanconi anemia
homologous recombination DNA repair enzymes
31
what causes ataxia telangiectasia
nonhomologous end joining defect
32
a mutation in what gene causes ataxia telangiectasia
ATM
33
ataxia telangiectasia is due to a defect of the ATM gene on what chromosome number
11
34
sickle cell anemia is caused by what type of mutation
missense
35
sickle cell anemia occurs due to a single base substitution at the __ (what number codon) of the __ gene
6th beta
36
what is the change in bases that occurs with sickle cell anemia
adenine-->thymine (GAG-->GTG)
37
what is the substitution that occurs in HbS
glutamate—>valine
38
the amino acid substitution seen in HbS of valine to glutamate results in what type of interactions
hydrophobic
39
cystic fibrosis is caused by what mutation
deletion of phenylalanine at position 508
40
as a result of the cystic fibrosis mutation, what posttranslational modification is altered
glycosylation
41
frameshift mutations are evident when there is an insertion or deletion of ___
a non multiple of 3
42
tay sachs and duchenne muscular dystrophy occur due to what type of mutation
frameshift
43
what are 4 examples of trinucleotide repeat disorders
fragile X friedreich's ataxia huntingtons mytonic dystrophy
44
fragile X occurs due to a trinucleotide repeat of __
CGG
45
fragile X leads to hyper___
hypermethylation
46
what are the main symptoms of fragile X
developmental delay autism attention deficit hyperactivity disorder
47
tRNA is synthesized by what enzyme
RNA polymerase III
48
what is the sequence at the 3' end of tRNA that allows it to be used as a recognition sequence of proteins
CCA
49
what end, 5' or 3', is used as the amino acid binding site
3'
50
what enzyme loads the amino acid onto the 3' terminal hydroxyl group of tRNA
aminoacyl tRNA synthetase
51
what is the function of small nuclear RNA (snRNA)
splicing of pre-mRNA
52
what is the main enzyme involved in synthesis of mRNA
RNA polymerase II
53
how does alpha amanitin act as a toxin
inhibits RNA polymerase II
54
what is the function of DNA enhancers
increase the rate of transcription
55
is the addition of a 7-methylguanosine cap a post-transcriptional or post-translational modification
post-transcriptional
56
snRNPs have a high content of __
uridine
57
anti-sm antibodies against __ are seen in patients with __
snRNPs lupus
58
what 2 components make up a spliceosome
snRNP mRNA
59
does alternative splicing occur in post-transcriptional or post-translational modification
post-transcriptional
60
where does translation occur
in cytosol on ribosomes
61
a mutation in the 16S subunit will affect what part of protein synthesis
initiation
62
in prokaryotes, __S acts as a peptidyl transferase and in eukaryotes, __S acts as a peptidyl transferase
prokaryotes- 23S eukaryotes- 28S
63
are eF1 and Ef2 part of transcription or translation
translation
64
how does the anti-bacterial drug chloramphenicol work
inhibits peptidyltransferase
65
what type of mutation causes HbC
missense
66
cru di chat is an example of what type of mutation
large segment deletion

Genetics (4 decks)

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