Tutoring Flashcards

1
Q

telomere

A

end of chromosome

get shorter every replication-why we age

evenually can’t replicate well

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2
Q

chromsome can be single or

A

two sister chromatids

both have centrosomes

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3
Q

certain cancers have more

A

telomerase (redoes telomeres) and can proliferate faster without loss of telomeres

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4
Q

metacentric, submetacentric, telocentric, acrocentric

A

placement of centromeres, review photos

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5
Q

genotype

A

what gene do you have

heterozygous and homozygous

complete dominant, co dominance (spotts), incomplete dominance (pink flowers)

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6
Q

phenotype

A

what gene is expressed (what do you look like)

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7
Q

each chromosome has a p and q arm

A

44 autosomes (22 pairs)

x y

karyotype is 46XX, XY

location of specific gene 12q15.2 (chrom arm, subband, band) or size, banding pattern, centrosome position

lyonization inactivation of one x chromsomes (can be mosaic)

barr body-inactivated x

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8
Q

mosaicism

A

-different cells have different genotypes

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9
Q

pleiotropy

A

one gene effects 2 or more phenotypes

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10
Q

variable expresicvity

A

genotype can present differently in different people

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11
Q

penetrance

A

geneotype doesn’t equal phenotype

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12
Q

anticipation

A

huntington’s gets worse each generation

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13
Q

locus of hterogenity

A

many genotypes, one phenotype

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14
Q

x linked dominant males transmit to females

A

100% of the time

females transmit to all children 50% of the time

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15
Q

x linked recessive

A

mother to son trait normally

affected fathers make carrier daughters

colorblindness

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16
Q

heteroplasmu

A

certain number of mt mutations before dz presentation

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17
Q

homologous recomination same thing as

A

crossing over

what makes the differences between siblings

also random segregation (chromosomes separate into different cells)

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18
Q

translocation

A

reciprocal exchange of material betwen two chromosomes

robertsonian-translocation only between acrocentric chromosomes (13, 14, 15, 21, 22) result in extra chromosome (pataeu and downsyndrome)

will result in trisomies and monosomies

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19
Q

genomic imprinting

A

normal, one allele is turned off via methylation

example is 15q11-13 prader willi/angelman

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20
Q

uniparental disomy

A

2 copies of same chromosome from 1 parent

can also cause PW/angelman

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21
Q

gene frequency

A

proportion of each genotype in population (p2, q2, 2Pq)

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22
Q

allele frequency

A

proportion of allele in population (p and q)

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23
Q

know central dogma

A

replication, transcription, translatino, reverse tarnscription

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24
Q

DNA

A

ds and antiparelle, sugar phosphate backbone is negatively charged, 10b per turn, two H for AT, 3H for GC

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25
Q

histones epigenetics

A

octamer protein, lots of Luys and arg. + charge

  • DNA wraps around Histones with H bonds

modifications of histones tells DNA what form to be in

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26
Q

acetlation with HATs

A

activates DNA

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27
Q

deacytlation with HDACs

A

deactivates DNA

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28
Q

methylation of DNa

A

deactivates DNA

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29
Q

methylation of histones

A

can activate or deactivate

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30
Q

DNA methylation done by

A

methyl transferases (INHIBIT/deactivates)

happens in promoters rich in CG islands

assocaited with genomic imprinting (inactivate one copy of a gene)

lyoniazation (inactivate chromosome X)

aging

carcinogenesis

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31
Q

one histone and 146 bp DNA make

A

nucleosome

many nucleosomes in line make chromatin

heterochromatin tight, not active
euchromatin light actve

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32
Q

copy number vairaitions

A

makes us different (ethinc)

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33
Q

miRNA

A

micro rna, contorl expression of other genes by stopping mRNA

34
Q

long terminal repeats

A

long repeats of DNA of viruses, used to insert into human DNA

35
Q

replication

A

5’3 direction

dnal helicase opens uses atp
ssDNA bp=stabilizes dsDNA 
topoisomerase prevents supercpos
know leading and lagging 
know different dna polymerase
36
Q

UV radiation

A

pyrimidine dimers (cancers)

37
Q

ionizing

A

ds DNA break Xrays

38
Q

DEPURINATION

A

CUT OUT A/G

39
Q

DeAMINATION

A

A HYP
G XAN
U-URIC ACID?

40
Q

cross linking

A

nitrogen mustard (poison gas) cisplatin (anticancer) mitomycin

41
Q

alkylating

A

DMS,MMs cleaning

42
Q

intercalating

A

ethidium bomide, thalidomide, docorubicin (cancer)

43
Q

know how XP and colon cancer and cockayne

A

know the enzymes used in the NER/MER

44
Q

protein synthesis initiation

A

always met, uses 1 GTP, binds P sites, requires eIF2 )has GTP)

small unit binds with mRNA

uses ATP to slide along using GTP=GDP to attach large unti

aminoacyl tRNa binds the A

large unit slides first, small second

shine dalgardno start codon in prokaryotes

45
Q

protein synthesis elongation

A

need 2GTP for every 1 AA added

for amking bond and attaching

46
Q

protein synthesis termination

A

UAA, UAG, UGA in A release

uses 1 GTP

47
Q

know mutations

A

silent-no change in aa
missense change in aa no effect (or big effect)
nonsense-early termiantion
frameshity-change in sequence

48
Q

sickle cell

A

missense glu-val

49
Q

dmd

A

framshift

50
Q

beta tal

A

frameshift

51
Q

shiga binds to

A

60S

52
Q

ricin binds to

A

60s

53
Q

streptomucin binds to

A

30s

54
Q

clinda binds to

A

50s

55
Q

ertyrhomicine binds to

A

50s

56
Q

tetracyclin binds to

A

30s

57
Q

puromycin causes

A

premature chain termination in both

58
Q

cloramphicol

A

stops prok. peptidyl transferase

59
Q

cyclohex

A

inhib. euk peptidyl transferase

60
Q

dipth. toxin inactivates

A

EF2GTP (elogation factor?)

61
Q

know diagram for protein sorting

A

know it

know tim and tom

62
Q

cell cycle

A
g1 growth and protein synthesis 
s dna rep
g2 check stability
m mitosis
g0 quiesence 

2n means g1
4n means g2

63
Q

CDKs bind with

A

cyclins and drive forward

64
Q

cdk2 g1 to s

A

cdk1 g2-m

65
Q

know dkis

A

and inhibitors

66
Q

know diagram for

A

cdk cyclins

67
Q

im a gimp rag

A

hallmarks for cancer

68
Q

apoptosus

A

dna damage: upregualtion of BAX/bak releases cyt c apoptosome forms and caspase 9 activates caspase 3, 6, 7 activation

receptor signaling: fas/TNF bind receptor make fADD activates caspase 8 activatse caspases 3.6.7

69
Q

know different stem cells and potency

A

know it

70
Q

iPS cells

A

induced transcription factors into adult cells to make stem cells

teratoma

71
Q

SCNT

A

takes anucleated egg cell and inserts nulceus from another cell and makes individual’s own embyronic stem cell

72
Q

know different signaling

A

know it

73
Q

GPCR

A
ligand binds receptor 
confromational change
GPCR bind Gp protein 
GTP echange 
Ga dissociats and does stuff
74
Q

Gq

A

activaes phospholipase c

75
Q

Gs activates adenylate cyclase

A

gi inhibts adenylate cyclase

76
Q

gt stimnulates

A

cGMP phosphodiestrase

77
Q

know when epi binds to a b and an a receptor

A

B goes with S
A goes with I

QISS
1a 2a b1 b2

78
Q

if you inhibit cGMP

A

you keep cGMP around

79
Q

ras dependent

A

ras-mapk-gene trasncription

80
Q

ras indepdent

A

pi3k-pkb-altered protein and enzyme activity

81
Q

ras mapk

A

transcriptopn-glucokinase

82
Q

ras independent

A

activates glyocgen synthase and glut 4 to plasma membrane