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:) Flashcards

1
Q

whats the name of this? which bones does it connect?

A

lamboid suture: connects parietal bones with occipital bone

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2
Q

main body venous system?

A
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3
Q

where is the cecum ?

what connects to it?

A

connects to appendix

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4
Q

where is popliteal artery / vein?

A
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5
Q

what describes vein fits this description: It is the longest vein in the body, running along the length of the lower limb

A

great saphenous vein

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6
Q

what is name of disease for failure of healthy bile acid cycle?

what needs to happen for this to occur?

A

only need failure in ONE transporter (ATP8B1 in hepatocytes) cause this disease

progressive familial intrahepatic cholestasis (PFIC)

  • jaundice
  • dark urine
  • pruritis (severe itching)
  • foul smelling fatty stool

failure to thrive

  • nause / vomiting

need liver transplant .

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7
Q

name and describe two mutations in CFTR protein that cause CF

what are the drugs used to treat / how work?

A
  • mutant ΔF508 CFTR: no mature CFTR gets to the membrane. fails to get folded properly and gets degraded in ER. 85% cases
    drug: Lumacaftor (drug class = corrector) helps ΔF508 to fold, so more channel molecules reach plasma membrane = chemical chaperone. CFTR becomes more stablilised

mutant G551D CTFR: channel fails to open properly

drug: Ivacaftor: (drug class = potentiator) assists in opening of the channel by binding directly to channel.

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8
Q

name two types of antibiotics that interfere with DNA replication in bacteria

A
  1. Fluroquinolones: taret topoisomerases in resp. and urinary tract infections
  2. Trimethoprim: target nucleotide synthesis
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9
Q

what is the antibacterial effect of quinolones on bacteria?

A

interact with targets: topoisomerase IV and tyrase into toxic enzymes. disintegration of bacteria DNA. death

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10
Q

what are the different types of DNA repair?

A
  • *1. Single strand repairs**
  • Base Excision Repair (BER)
  • Nucleotide Excision Repair (NER)
  • *2. Double strand repairs**
  • Homologous recombination (HR)
  • Non homologous end joing (NHEJ)
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11
Q

where is the coracoid process and where is the acromonion?

A
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12
Q

where are the lesser and greater tubercules of humerus?

A
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13
Q

where is the trochlea and the capitulum of humerus?

A
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14
Q

where is the superior and inferior vertebral notches?

A
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15
Q

name a disease that is caused by:

  • nucleotide excision repair being affected?
  • homologous recombination being affected?
  • mismatch repair?
A

NER: xeroderma pigmentosum: skin cancer

HR: BRCA2 effected - breast cancer

mismatch repair: colon cancer (MutL & MutS damaged)

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16
Q

give example of autosomal recessive disease (x3)

A

phenylketonuria (PKU)

sickle cell disease

CF

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17
Q

give 3 x-linked dominant traits

A

goltz syndrome

x-linked poryphyria

fragile x-syndrome

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18
Q

e.g. of x-linked recessive diseases?

A

hameophilia A andB

Hunter syndrome

Duchenne and Becker MD

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19
Q

which chromosmes udergo crossing in Robertsonian translocation for downs syndrome?

A

14 and 21

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20
Q
A
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21
Q

how do u tell difference between where superior and inferior mesenteric veins are located?

what do they go into?

A
  • superior mesenteric vein is located on right
  • inferior mesenteric vein is located on left

-into hepatic vein

22
Q
A

1: cephalic vein
2: basilic vein
3: median cubital vein

23
Q

what lies on either side of the third ventricle?

A

thalamus

24
Q

what produces CSF in the ventricles of brain?

A

the choroid plexus

25
Q

ID the key group of lymph nodes:

A
  1. axillary lymph nodes
  2. inguinal lymph nodes
  3. cervical lymph nodes
26
Q

what does 3rd ventricle communicate with 4th ventricle via?

A

cerebral aqueduct

27
Q

what is klinefelter syndrome caused by? symptoms?

A

Klinefelter syndrome: (47, XXY). Extra X chromosome. Infertile - no sperm produced. Poorly developed secondary sexual characteristics, tall. 1/1000 males

28
Q

how do the lateral ventricles communicate with the third ventricle?

A

via the intraventricular foramen

29
Q

edwards syndrome is a trisomy syndrome due to which chromsome?

patau syndrome is a trisomy syndrome due to which chromsome?

symptoms of each?

A

Edwards Syndrome - trisomy 18: multiple malformations (esp. heart). clenched hands with overlapping fingers)

Patau syndrome - trisomy 13: multiple malformations. Particularly: incomplete lobation of brain, cleft lip

In both: most babies die in first few weeks of life. if not - severe mental retardation

30
Q

describe Turner syndrome?

A

Turner syndrome -(45, X) Loss of X chr: 1/5000 females. 99% lost spon. in preg. short. abscence of menstruation (amenorrhea). congenital heart d: 20%. webbed neck

31
Q

on a chromosome - what are the differnces between the G-light band and G-dark band?

A
  • *G-light:** gene rich, GC-rich, early replicating
  • *G-dark:** gene poor, AT-rich, late replicating
32
Q

how can you see the X-inactive region of female somatic cell when a person has undergone X-inactivation?

A

female somatic cells that have X-inactivation have Barr Bodies. represents inactive chromsome in female somatic cell. this type of chromatin is called heterochromatin

33
Q

What is the SRY region on the Y chromosome?

A

SRY = Sex Determining Region of Y-chr.

SRY encodes for proteins that is a member of the HMG (high mobility group transcription factorrs) group -> which in turn are responsible for switching on genes that determine male sex determination

34
Q

what are the risk factors that are increased bc of Barker Hypothesis? what diseases do they lead to?

A
  • increased adipose tissue, increased lipid accumulation in muscles: type 2 diabetes
  • impaired glucose sensing: hyperinsulinemia (means the amount of insulin in your blood is higher than what’s considered normal. )
  • leptin resistance in brain (think always hungry): obesity
  • lipid accumulation in CV system: CVD
35
Q

role of H1 histone?

A

histone H1 keeps the keeps the DNA attached to the histones

36
Q

where does DNA methlyation occur? (epigenetics)

A
  • on cytosine: to form methyl-5-cytosine
  • specifically on: CPG islands of promoter regions; where cytosine is adjacent to guanine
37
Q

name enzymes that make histones a) accessible? b) inaccessible

where specifically on the histone does modication occur?

A

a) histone acetylase (HAT): opens DNA to make it accessible

b) Histone deactylase (HDAC) associated with closing DNA to make it inaccessible

/

modifcation: on lysine and serine

38
Q

which influencing mechanism of the epigenome is inherited?

A

DNA methylation

39
Q

what are the epigenetic mechanisms / regulators of epigenome

A
  1. DNA methylation-cytosines
  2. micro and small RNAs
  3. Histone modification - histones
  4. chromatin architecture
40
Q

how can you predict the prognosis of developed cancer from methylation?

A

hypermethylation is associated with inactivation of tumour suppression.

IN ADDITION TO THIS CANCER, IF YOU HAVE

- hypermethylation of ECM or growth factor proteins -> causes poorer prognosis

- hypomethylation of ECM or growth factor proteins -> improved prognosis

41
Q

name and explain two imprinting syndromes?

A

Prader-Willi / Angelman syndrome

both produced by same genetic mutation. but phenotype is different depending if on male / female

Prader-Willi: (autosomal). deletion is on fathers copy of Chr. 15. region: 15q11-q13. excess weight gain. development delays

Angelman syndrome: deletion of maternal copy Chr. 15. happy demeanour, severe mental b

42
Q

what are the DNA and RNA start and stop codons?

A

RNA: start - AUG. (methionine) stop - UAA, UGA, UAG

DNA: start - ATG. stop - TAA, TGA, TAG

-

43
Q

which base pairs can inosine recognise / bind?

A

A,C,U

44
Q

what does aminoacyl RNA transfer synthase enzyme do?

A

adds correct amino acids onto the tRNA, via hydrolysis reaction

45
Q

how does chloramphenicol work as an antibiotic?

how does tetracycline work as an antibiotic?

A

chloramphenicol binds to 50S and inhibits the formation of peptide bond. bacteria dies

tetracycline interferes with attachment of tRNA to mRNA on 30S ribosome

46
Q

which DNA stand is used as a template for transcription / which isnt? why?

what are the strands called?

A
  • only one of the 2 DNA strands is transcribed. only the 3’ - 5’ ->called the antisense or template strand. means we get correct 5’ - 3’ direction
  • the sense strand / non template stand has same sequence as the RNA -> also called the coding strand
47
Q

where does transcription of DNA occur?

A

ATG on Exon 1 !!

48
Q

role of tata box?

A

- TATA box: allows RNA polymerase II to orientate correct position on the gene.

49
Q

what is RNA cap made from? which end?

A

5’ end: 7-methly guanoside and triphosphate linkage

50
Q

most commonly amplified oncogene?

A

c-MYC one

funmed random (19 decks)

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