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
Q

Avery, MacLeod, McCarty

A
  • 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
Q

Alfred Hershey and Martha Chase [first experiment]

A
  • 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
Q

Alfred Hershey and Martha Chase [second experiment]

A
  • 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
Q

Rosalind Franklin and Maurice Wilkins

A
  • xray crystallography and diffraction data

- didn’t get credit for basically discovering the structure of DNA

29
Q

Erwin Chargaff

A
  • discovered the predetermined base pair ratio

- A-T, C-G

30
Q

Watson and Crick

A
  • 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
Q

covalent bond

A
  • chemical bond involving sharing of electron pairs btwn atoms
  • bond btwn 5’ phosphate group and 3’ OH group of another nucleotide
32
Q

hydrogen bond

A
  • force of attraction btwn hydrogen atom and more electronegative atom
  • bonds connect A to T and C to G
33
Q

biological organisms contain 2 types of _______ (DNA and RNA), which are made up of ________.

A
  • 2 types of nucleic acids

- made up of nucleotides

34
Q

components of a nucleotide (adenine/A , guanine/G, thymine/T, cytosine/C)

A
  • phosphate group (backbone)
  • sugar (deoxyribose)
  • nitrogen-containing base
  • 5’
  • 3’ hydoxyl
35
Q

DNA is a “directional molecule”

A
  • has 2 ends that are not identical

- base pairing makes two strands complimentary in base composition/ antiparallel

36
Q

how DNA is compacted so many times into chromosomes

A
  • 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
Q

DNA polymerase

A
  • enzymes that synthesize DNA
  • have smooth track (mutation free DNA) to go fast and accurately
  • translesion polymerases used if obstruction/ mutation
38
Q

lower case greek letters vs. roman numerals

A
  • greek: (eukaryotic) used to describe DNA polymerase in eukaryotic cells
  • roman: (prokaryotic) DNA polymerase in E.coli
39
Q

semiconservative replication

A
  • 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
Q

Meselson and Stahl

A
  • 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
Q

linear replication

A

-happening in straight line

42
Q

theta replication

A
  • 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
Q

DNA replication requires….

A
  • 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
Q

okazaki fragments

A
  • short segments that synthesize the lagging strand in 5’ to 3’ direction, away from replication fork
  • joined by enzyme DNA ligase
45
Q

4 stages of DNA replication

A
  1. initiation
  2. unwinding
  3. elongation
  4. termination
46
Q

initiation

A

-initiator protein recognizes and binds to oriC site

47
Q

unwinding

A
  • helicase unwinds DNA
  • single-stranded binding proteins (SSBPs) come in
  • gyrase relaxes supercoiling
  • primase synthesizes short RNA primers so 3’-OH present
48
Q

elongation

A
  • DNApols synthesize new DNA

- nicks are sealed by DNA ligase

49
Q

termination

A
  • last step in DNA replication
  • occurs when replication forks meet
  • or if Tus blocks further replication in eukaryotic
50
Q

evidence that RNA predates DNA

A
  1. can’t make DNA without RNA (DNA replication needs RNA)

2. RNA has so many functions (it could survive w/out DNA)

51
Q

telomeres

A

-ends of chromosomes

52
Q

telomerases

A
  • enzymes that extend DNA

- fill the gap left when RNA primer is removed

53
Q

genetic code

A
  • direct relationship of nucleotides to amino acids:

- info for animno acid is carried in sequence of 3 nucleotides

54
Q

transfer of genetic info

A
  • transcription (DNA transcribed into RNA)

- translation (RNA translated into protein)

55
Q

translation stop and start codons

A
  • one start codon: AUG

- 3 stop codons

56
Q

translation stop and start codons

A
  • one start codon: AUG

- 3 stop codons

57
Q

transcription start and stop

A
  • start at promoter sequence

- stop at terminator sequence

58
Q

mRNA

A
  • messenger RNA
  • carries genetic codes for proteins
  • in cytoplasm and nucleus
59
Q

rRNA

A
  • ribosomal RNA
  • structural and formational components of ribosome
  • cytoplasm
60
Q

hnRNA

A
  • heterogeneous nuclear RNA

- synthesized pre-mRNA from DNA template in transcription

61
Q

mRNA

A
  • 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
Q

tRNA

A
  • transfer RNA

- helps incorporate/carries amino acids into polypeptide chains