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Nucleotides Flashcards

1
Q

Nucleotides

  • what are they
  • Purines
  • Pyrimidines
  • binding
A
  • building block of nucleic acids
  • adenine and guanine
  • cytocine, thymine, uracil
  • adenine to thymine with double bond, cytosine to guanine with triple bond
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2
Q

Chromatin

  • Hetero
  • Eu
A
  • tight, resting phase

- loose, cell division

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3
Q

Tests for detection

  • Southern Blot
  • Northern Blot
  • Western Blot
  • Elisa
  • PCR
A
  • DNA
  • RNA
  • Protein
  • antibodies
    amplifies small amount of DNA or RNA
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4
Q
  • Lesch nyhan
  • adenosine deaminase def
  • xanthing oxidase def
  • hereditary orotic aciduros
A

NEED TO KNOW

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5
Q

Purine Synthesis DeNovo

  • pathway
  • IMP goes into
  • finished products
A
  • R5P + PRPP synthetase -> PRPP + pyrophosphate aminotransferase -> 5 phosphoribosykamine -»» IMP
  • IMP + adenylosuccinate synthase-> adenylosuccinate + adenylosuccinate lyase-> AMP and IMP+ IMP dehydrolase -> XMP + XMP glutamine amidotransferase -> GMP
  • ATP and GTP
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6
Q

Lesch Nyhan Syndrome

  • genetics
  • what is it, why
  • normal pathway
  • sxs
A
  • x linked
  • accumulation of Uric Acid bc of HGPRT doesn’t work
  • Cannot recycle Hypoxanthine and guanine into IMP and GMP
  • crystals in diaper, poor muscle tone, irritability and self mutilating behavior
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7
Q

Gout

  • what is it
  • mutation
  • findings
  • acute management
  • chronic management
A
  • hyperurecemia causing crystal formation in joints
  • activating mutation of PRPP causing increase de novo production which will increase the amount that will be broken down
  • needle shaped negatively birefringent crystals
  • NSAID and colcichine os indomethacin w/ pts who have renal problem
  • allopurinol
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8
Q

SCID

  • what is it
  • caused by
  • prognosis
  • tx
A
  • severe combined immune deficiency
  • adenosine deaminase is missing -> dATP levels rise -> shuts down RNR -> shut down DNA synthesis -> shuts down rapidly dividing cells in body
  • 2 yrs old, death from infection
  • bone marrow transplant
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9
Q

Xanthine Oxidsae Def

  • what happens, how
  • sxs
  • tx
A
  • xanthine accumulation, because guanosine and xanthosine can still be broken down into xanthine but unable to break down into uric acid w/o XO
  • stone formation and kidney failure
  • lots of fluids to prevent stone formation and avoid foods high in
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10
Q

Xeroderma Pimentosum

  • what is it
  • genetics
  • epi
  • sxs
  • sequlae
  • prognosis
A
  • inability to repair damage caused by UV light
  • AR
  • children
  • photo sensitivity, hyper pigmentation, pokyloderma (hyper or hypo pigmentation, thin skin, telangectasia)
  • prone to develop skin CA
  • will die from squamous cell CA or melanoma by 20 yrs old)
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11
Q

Orotic Aciduria

  • what is it
  • mutation
  • sxs
  • tx
A
  • excessive excretion of orotic acid bc of UMP synthetase
  • AR
  • white crystals in diaper, megaloblastic anemia, and inhibits RNA/DNA synthesis
  • supplement CMP and UMP to provide neg feedback and decrease orotic acid present
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12
Q

Pyrimidine 5 nucleotide deficiency

  • mutation
  • what is it
  • causes
A
  • AR disorder
  • needed for pyrimidine metabolism to turn nucleotide into nucleoside but not working so have build up of pyrimidines
  • hemolytic anemia
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13
Q

Damage to DNA Excision enzymes

  • Thymine dimers
  • Cytosine Dimers
  • Apurination or aprimidation
  • mimastched
A
  • excision
  • AP endonuc
  • AP endonuc
  • mismatch repair
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14
Q

Histones
- purpose
-

A
  • package DNA
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15
Q

DNA helices

  • A
  • B
  • Z
A
  • right handed w/ 10 bp to turn
  • right handed w/ 11 bp to turn
  • left handed w/ 12 bp to turn
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16
Q

Cell cycle

  • G1
  • S
  • G2
  • M
A
  • Makes proteins need for replication
  • DNA synthesis
  • make protein for mitosis
  • mitosis
17
Q

Mitosis

  • Prophase
  • Early Prophase
  • Late Prophase
  • Metaphase
  • Anaphase
  • Telophase
A
  • prelude to mitosis
  • chromosomes clump and nuc membrane dissolves
  • chromosomes pair up
  • chromosomes line up along middle
  • chromosomes get pulled apart
  • chromosomes are separated
18
Q

Therapeutic Radiation

  • what does it do
  • cells affected
A
  • causes DNA double stand breaks so that replication cannot occur
  • rapidly dividing cells, malignant
19
Q

DNA replication

  • read in
  • produced in
  • semi conservative
  • origin
A
  • 3 to 5 direction
  • 5 to 3 direction
  • always parent and daughter strand
  • multiple sites
20
Q

PCR steps

  • 1
  • 2
  • 3
A
  • denature, separate w/ heat
  • primer binds w/ cooling
  • elongation, will make copies
21
Q

DNA replication

  • 1
  • 2
  • 3
  • 4
A
  • helicase unwinds
  • single strand binding stabilizes unwound
  • primase lays 8-10 on leading strand, DNA poly 3 replicates and on lagging strand will make shorter stands with more primers that DNA poly 1 will remove
  • DNA ligase connects Okazaki fragements on lagging strand
22
Q

Topoisomerase 1 and 2

  • function
  • chemo drug
  • antibiotic
A

responsible for removing supercoils and relaxing DNA

  • etoposide
  • fluoroquinolones
23
Q

Telomerase

- function

A
  • elongates parental strand telomere so that DNA does not get cut off
24
Q

Promoter

  • Core promoter
  • HOX genes
  • Homeotic genes
A
  • in front of where gene will be transcribed
  • transcription start site
  • DNA sequence that codes for transcription factors that are needed for morphogenesis -> layout of body
  • development of anatomical structures
25
Q

Types RNA

  • mRNA
  • rRNA
  • tRNA
A
  • carries coded DNA message into cytoplasm to be made into protein
  • produce ribosome which is the structure that synthesizes protein
  • transfer RNA, bring in AA when building proteins
26
Q

Ribosomes

  • prokaryotic
  • eukaryotic
  • made in
A
  • 70 -> 50 + 30
  • 80 -> 60 + 40
  • nucleolus
27
Q

Transcription Promoters

  • CAAT box
  • TATA box
A
  • binding spot for transcription factors

- core promoter, anfor prokaryotesd is general binding site for gene transcription

28
Q

Transcription

  • Pre initiation
  • Promoter clearance
  • Elongation
  • Termination
  • modification
A
  • TFIID binds TATA box via TBP and 5 more transcription factors and RNA poly combine around TATA box forming pre-initiation complex
  • RNA poly binds first base on DNA and clears promoter
  • RNA poly moves down DNA in and copies it
  • termination sequence that marks end of transcription
  • transcribed mRNA must be modified to move out of nucleus
29
Q

TRanscription Reg

  • rate controlled by
  • enhancer genes
  • repressor genes
A
  • activators and repressors
  • increase transcription, located anywhere on same chromosome as gene they are enhancing
  • stop transcription and jump from chromosome to chromosome
30
Q

Modification of mRNA

  • splicing
  • cap
  • tail
A
  • introns get removed w/ snRNPs and stay IN nucleus while exons will exit
  • 5 methyl gunosine cap, protecrs mRNA from ribonucleases and serves as ribosome binding site
  • poly a tail at 3’ end to prevent genes from degrading and guide RNA to 30s ribosome
31
Q

Translation

  • what is it
  • needs
  • start codon
  • stop codon
  • enzyme to attach AA
  • initiation
  • elongation
  • termination
A
  • creation of protein from mRNA
  • tRNA
  • AUG (methionine)
  • UGA, UAA, UAG
  • peptidyl transferase
  • small ribosomal unit attaches to cap of mRNA and moves to start codon, tRNA with meth binds, large ribosomal subunit binds, the second tRNA with next AA enters the A site, binding of meth to AA in A spot, ribosome move mover one codon
  • continue running down the mRNA to attach more and more AA to make protein
  • stop codon encountered and release factor enters A site causing ribosome to dissociate
32
Q

Mutation

  • frameshift
  • point
  • silent
  • missense
  • nonsense
A
  • added or removing one base and causing entire reading frame to be moved
  • same amount of bases but changed from one base to different base
  • does not change AA
  • different AA
  • codes for stop codon and makes truncated protein that is not function

Boards II (20 decks)

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