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BIO 303 > Exam 3 > Flashcards

Exam 3 Flashcards

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1
Q

3 categories of chromosome mutations

A
  • chromosome rearrangements
  • aneuploidy
  • polyploidy
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2
Q

aneuploidy

A
  • number if chromosomes is altered such that one or more are added or deleted
  • changes number of INDIVIDUAL chromosomes in a set
  • ex. 2n+1, 2n-1, 2n+2, 2n-2
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3
Q

polyploidy

A
  • one or more complete sets of chromosomes are added

- 2n+n=3n, 3n, 4n

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4
Q

chromosome rearrangements

A

-structure of chromosome is altered in some way
-4 basic types:
~deletions
~duplications
~inversions
~translocations

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5
Q

deletions

A
  • worst chromosome rearrangement, usually fatal (genetic material is lost)
  • ABCDEF (deletion) ACDEF
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6
Q

duplications

A
  • get extra copy of gene
  • bad bc increase gene dosage + fusion genes
  • tandem: ABCDEF (duplication) ABC(BC)DEF
  • reversed: ABCDEF (duplication) ABC(CB)DEF
  • displaced: ABCDEF (duplication) ABCD(BC)EF
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7
Q

inversions

A

-chrom is rearranged from end to end
-bad bc fusion genes
-paracentric: centromere not involved
ABC•DEFG (inversion) ABC•(GFED)
-pericentric inversion: around centromere
ABC•DEFG (inversion) AB(F•EDC)G

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8
Q

translocations

A
  • part of chrom breaks and attaches to different chrom
  • bad bc gene dosage + fusion genes
  • simple: lil piece of 3 end up on chrom 8
  • reciprocal: piece of 3 ends up on 8, piece of 8 ends up on chrom 3
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9
Q

euploidy

A
  • normal number of chromosomes in somatic and gamete cells
  • 23 homologous chromosome pairs
  • 46 chromosomes
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10
Q

nullisomy

A
  • loss of homologous pair of chrom

- 2n-2

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11
Q

monosomy

A
  • loss of a single chromosome
  • 2n-1
  • lethal
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12
Q

trisomy

A
  • addition of one chrom to diploid set
  • 2n+1
  • autosomal trisomy is common (down syndrome)
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13
Q

tetrasomy

A
  • gain an additional homologous pair

- 2n+2

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14
Q

nondisjunction

A
  • failure of chromosomes to separate at anaphase

- most common cause of aneuploidy

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15
Q

polyploidy

A
  • increased number of chromosome sets

- ex. 2n + n becomes 3n (triploidy) or 4n (tetraploidy)

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16
Q

auto-polyploidy

A
  • all chromosome sets are from a single species

- results from errors in meiosis in gamete formation, fertilization, or mitosis after fert

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17
Q

allo-polyploidy

A
  • chromosome sets are from two or more species/ hybridization of 2 species
  • common in plants
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18
Q

most common cause of spontaneous abortion is _________

A
  • triploidy (2n+n)

- 15-18% of all abortions

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19
Q

good genetic material must…

A
  • contain complex info in a stable fashion
  • replicate faithfully and w/high fidelity
  • must encode the phenotype
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20
Q

genes are made up of ______

A

nucleic acids (people debated this vs. proteins bc they are more complex)

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21
Q

Johanne Friedrich Miescher

A
  • isolated nuclein from nuclei of white blood cells (with pus)
  • nuclein contained C, H, O and N, P (later found in DNA)
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22
Q

Walter Flemming

A

-identifies “threadlike bodies” (chromosomes) during cell division

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23
Q

Walter Sutton

A

-linked chromosomes as carriers of Mendel’s units of heredity (genes)

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24
Q

Fred Griffith

A
  • elegant experiment increased our knowledge of chemical nature of genes
  • mice injected with live R cells (harmless) and heat-killed S cells: mice die, live S cells in blood
  • hypothesized “transforming principle” (DNA) from S was responsible for conversion of R to S strain
  • 1st clue to unit of heredity
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25
Avery, MacLeod, McCarty
- extended Griffiths's experiment (mice) - mixed R strain with DNA from S - proteases did not prevent transformation - DNase abolished transformation of R to S colonies
26
Alfred Hershey and Martha Chase [first experiment]
- experimented with T2 bacteriophage (only contain DNA and protein) - P^32 labeled DNA - S^35 labeled protein - P^32 DNA traveled into e.coli cell and made new virus babies, where S^35 protein stayed inside phage
27
Alfred Hershey and Martha Chase [second experiment]
- blended S^35 protein and P^32 separatly - centrifuged - S^35 dyed material (protein) rose to top of beaker - P^32 dyed material (DNA) sunk to bottom bc more dense and heavier - concludes DNA is genetic material in bacteriophages - proved nucleic acid is genetic material and chemical component of heredity
28
Rosalind Franklin and Maurice Wilkins
- xray crystallography and diffraction data | - didn't get credit for basically discovering the structure of DNA
29
Erwin Chargaff
- discovered the predetermined base pair ratio | - A-T, C-G
30
Watson and Crick
- used info discovered by Franklin and Chargaff to claim: | - DNA is made up of 2 anti-parallel polynucleotide chains coiled to form a double helix
31
covalent bond
- chemical bond involving sharing of electron pairs btwn atoms - bond btwn 5' phosphate group and 3' OH group of another nucleotide
32
hydrogen bond
- force of attraction btwn hydrogen atom and more electronegative atom - bonds connect A to T and C to G
33
biological organisms contain 2 types of _______ (DNA and RNA), which are made up of ________.
- 2 types of nucleic acids | - made up of nucleotides
34
components of a nucleotide (adenine/A , guanine/G, thymine/T, cytosine/C)
- phosphate group (backbone) - sugar (deoxyribose) - nitrogen-containing base - 5' - 3' hydoxyl
35
DNA is a "directional molecule"
- has 2 ends that are not identical | - base pairing makes two strands complimentary in base composition/ antiparallel
36
how DNA is compacted so many times into chromosomes
- DNA is supercoiled in the nucleus using topoisomerase enzymes - DNA wound around positively charged histone proteins to form chromatin - chromatin compacts into nucleosomes (then supercoiled)
37
DNA polymerase
- enzymes that synthesize DNA - have smooth track (mutation free DNA) to go fast and accurately - translesion polymerases used if obstruction/ mutation
38
lower case greek letters vs. roman numerals
- greek: (eukaryotic) used to describe DNA polymerase in eukaryotic cells - roman: (prokaryotic) DNA polymerase in E.coli
39
semiconservative replication
- each daughter strand is composed on one new strand and one old strand - each site on double helix acts as a template for complementary base-pairing
40
Meselson and Stahl
- proved replication is semiconservative (not conservative or dispersive) - semiconservative: spun then two regular N15 tubes, 2 tubes with new N14 DNA - conservative: spun, then three tubes new N14 jDNA, one tube norm N15 - dispersive: mixed hybrids, band goes up for N15
41
linear replication
-happening in straight line
42
theta replication
- replication type for circular chromosomes like in E.coli - produces 2 circular DNA molecules - DNA unwinds at origin, producing replication bubble - 2 replication forks - bidirectional replication (replicates in opposite directions)
43
DNA replication requires....
- single-stranded template DNA (ssDNA) - raw materials (nucleotides, Mg) - numerous enzymes (to unwind DNA, read template, assemble new strand of DNA, supercoil DNA) - DNA synthesized only in a 5' to 3' manner
44
okazaki fragments
- short segments that synthesize the lagging strand in 5' to 3' direction, away from replication fork - joined by enzyme DNA ligase
45
4 stages of DNA replication
1. initiation 2. unwinding 3. elongation 4. termination
46
initiation
-initiator protein recognizes and binds to oriC site
47
unwinding
- helicase unwinds DNA - single-stranded binding proteins (SSBPs) come in - gyrase relaxes supercoiling - primase synthesizes short RNA primers so 3'-OH present
48
elongation
- DNApols synthesize new DNA | - nicks are sealed by DNA ligase
49
termination
- last step in DNA replication - occurs when replication forks meet - or if Tus blocks further replication in eukaryotic
50
evidence that RNA predates DNA
1. can't make DNA without RNA (DNA replication needs RNA) | 2. RNA has so many functions (it could survive w/out DNA)
51
telomeres
-ends of chromosomes
52
telomerases
- enzymes that extend DNA | - fill the gap left when RNA primer is removed
53
genetic code
- direct relationship of nucleotides to amino acids: | - info for animno acid is carried in sequence of 3 nucleotides
54
transfer of genetic info
- transcription (DNA transcribed into RNA) | - translation (RNA translated into protein)
55
translation stop and start codons
- one start codon: AUG | - 3 stop codons
56
translation stop and start codons
- one start codon: AUG | - 3 stop codons
57
transcription start and stop
- start at promoter sequence | - stop at terminator sequence
58
mRNA
- messenger RNA - carries genetic codes for proteins - in cytoplasm and nucleus
59
rRNA
- ribosomal RNA - structural and formational components of ribosome - cytoplasm
60
hnRNA
- heterogeneous nuclear RNA | - synthesized pre-mRNA from DNA template in transcription
61
mRNA
- messenger RNA - single stranded RNA molecule complementary to the DNA - follows hn-RNA when transcribed by RNA polymerase, then translated by ribosome to make polypeptide chain - carries genetic codes for proteins - in cytoplasm and nucleus
62
tRNA
- transfer RNA | - helps incorporate/carries amino acids into polypeptide chains

BIO 303 (4 decks)

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