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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?

24
Q

what produces CSF in the ventricles of brain?

A

the choroid plexus

25
ID the key group of lymph nodes:
1. axillary lymph nodes 2. inguinal lymph nodes 3. cervical lymph nodes
26
what does 3rd ventricle communicate with 4th ventricle via?
cerebral aqueduct
27
what is klinefelter syndrome caused by? symptoms?
**Klinefelter syndrome**: (47, XXY). Extra X chromosome. Infertile - no sperm produced. Poorly developed secondary sexual characteristics, tall. 1/1000 males
28
how do the lateral ventricles communicate with the third ventricle?
via the intraventricular foramen
29
edwards syndrome is a trisomy syndrome due to which chromsome? patau syndrome is a trisomy syndrome due to which chromsome? symptoms of each?
**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
describe Turner syndrome?
**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
on a chromosome - what are the differnces between the G-light band and G-dark band?
* *G-light:** gene rich, GC-rich, early replicating * *G-dark:** gene poor, AT-rich, late replicating
32
how can you see the X-inactive region of female somatic cell when a person has undergone X-inactivation?
female somatic cells that have X-inactivation have **Barr Bodie**s. represents inactive chromsome in female somatic cell. this type of chromatin is called heterochromatin
33
What is the SRY region on the Y chromosome?
**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
what are the risk factors that are increased bc of Barker Hypothesis? what diseases do they lead to?
- 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
role of H1 histone?
histone H1 keeps the keeps the DNA attached to the histones
36
where does DNA methlyation occur? (epigenetics)
- on **cytosine**: to form **methyl-5-cytosine** - specifically on: **CPG islands of promoter regions; where cytosine is adjacent to guanine**
37
name enzymes that make histones a) accessible? b) inaccessible where specifically on the histone does modication occur?
**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
which influencing mechanism of the epigenome is inherited?
DNA methylation
39
what are the epigenetic mechanisms / regulators of epigenome
1. DNA methylation-cytosines 2. micro and small RNAs 3. Histone modification - histones 4. chromatin architecture
40
how can you predict the prognosis of developed cancer from methylation?
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
name and explain two imprinting syndromes?
**Prader-Willi / Angelman syndrome** both produced by same g**enetic 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
what are the DNA and RNA start and stop codons?
RNA: start - **AUG**. **(methionine)** stop - **UAA, UGA, UAG** DNA: start - **ATG**. stop - **TAA, TGA, TAG** -
43
which base pairs can inosine recognise / bind?
A,C,U
44
what does aminoacyl RNA transfer synthase enzyme do?
**adds correct amino acids onto the tRNA**, via hydrolysis reaction
45
how does chloramphenicol work as an antibiotic? how does tetracycline work as an antibiotic?
**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
which DNA stand is used as a template for transcription / which isnt? why? what are the strands called?
- 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
where does transcription of DNA occur?
**_ATG on Exon 1 !!_**
48
role of tata box?
**- TATA box:** allows RNA polymerase II to orientate correct position on the gene.
49
what is RNA cap made from? which end?
5' end: **7-methly guanoside and triphosphate linkage**
50
most commonly amplified oncogene?
c-MYC one

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