Tutoring Flashcards by Liz Pennington

telomere

end of chromosome

get shorter every replication-why we age

evenually can’t replicate well

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chromsome can be single or

two sister chromatids

both have centrosomes

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certain cancers have more

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

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metacentric, submetacentric, telocentric, acrocentric

placement of centromeres, review photos

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genotype

what gene do you have

heterozygous and homozygous

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

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phenotype

what gene is expressed (what do you look like)

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each chromosome has a p and q arm

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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mosaicism

-different cells have different genotypes

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pleiotropy

one gene effects 2 or more phenotypes

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variable expresicvity

genotype can present differently in different people

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penetrance

geneotype doesn’t equal phenotype

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anticipation

huntington’s gets worse each generation

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locus of hterogenity

many genotypes, one phenotype

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x linked dominant males transmit to females

100% of the time

females transmit to all children 50% of the time

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x linked recessive

mother to son trait normally

affected fathers make carrier daughters

colorblindness

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heteroplasmu

certain number of mt mutations before dz presentation

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homologous recomination same thing as

crossing over

what makes the differences between siblings

also random segregation (chromosomes separate into different cells)

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translocation

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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genomic imprinting

normal, one allele is turned off via methylation

example is 15q11-13 prader willi/angelman

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uniparental disomy

2 copies of same chromosome from 1 parent

can also cause PW/angelman

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gene frequency

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

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allele frequency

proportion of allele in population (p and q)

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know central dogma

replication, transcription, translatino, reverse tarnscription

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DNA

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

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histones epigenetics

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

acetlation with HATs

activates DNA

deacytlation with HDACs

deactivates DNA

methylation of DNa

deactivates DNA

methylation of histones

can activate or deactivate

DNA methylation done by

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

one histone and 146 bp DNA make

nucleosome many nucleosomes in line make chromatin heterochromatin tight, not active euchromatin light actve

copy number vairaitions

makes us different (ethinc)

*miRNA*

micro rna, contorl expression of other genes by stopping mRNA

long terminal repeats

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

replication

5'3 direction ``` dnal helicase opens uses atp ssDNA bp=stabilizes dsDNA topoisomerase prevents supercpos know leading and lagging know different dna polymerase ```

UV radiation

pyrimidine dimers (cancers)

ionizing

ds DNA break Xrays

DEPURINATION

CUT OUT A/G

DeAMINATION

A HYP G XAN U-URIC ACID?

cross linking

nitrogen mustard (poison gas) cisplatin (anticancer) mitomycin

alkylating

DMS,MMs cleaning

intercalating

ethidium bomide, thalidomide, docorubicin (cancer)

know how XP and colon cancer and cockayne

know the enzymes used in the NER/MER

protein synthesis initiation

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

protein synthesis elongation

need 2GTP for every 1 AA added for amking bond and attaching

protein synthesis termination

UAA, UAG, UGA in A release uses 1 GTP

know mutations

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

sickle cell

missense glu-val

dmd

framshift

beta tal

frameshift

shiga binds to

60S

ricin binds to

60s

streptomucin binds to

30s

clinda binds to

50s

ertyrhomicine binds to

50s

tetracyclin binds to

30s

puromycin causes

premature chain termination in both

cloramphicol

stops prok. peptidyl transferase

cyclohex

inhib. euk peptidyl transferase

dipth. toxin inactivates

EF2GTP (elogation factor?)

know diagram for protein sorting

know it | know tim and tom

cell cycle

``` g1 growth and protein synthesis s dna rep g2 check stability m mitosis g0 quiesence ``` 2n means g1 4n means g2

CDKs bind with

cyclins and drive forward

cdk2 g1 to s

cdk1 g2-m

know dkis

and inhibitors

know diagram for

cdk cyclins

im a gimp rag

hallmarks for cancer

apoptosus

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

know different stem cells and potency

know it

iPS cells

induced transcription factors into adult cells to make stem cells teratoma

SCNT

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

know different signaling

know it

GPCR

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

activaes phospholipase c

Gs activates adenylate cyclase

gi inhibts adenylate cyclase

gt stimnulates

cGMP phosphodiestrase

know when epi binds to a b and an a receptor

B goes with S A goes with I QISS 1a 2a b1 b2

if you inhibit cGMP

you keep cGMP around

ras dependent

ras-mapk-gene trasncription

ras indepdent

pi3k-pkb-altered protein and enzyme activity

ras mapk

transcriptopn-glucokinase

ras independent

activates glyocgen synthase and glut 4 to plasma membrane