:) Flashcards
whats the name of this? which bones does it connect?
lamboid suture: connects parietal bones with occipital bone
main body venous system?
where is the cecum ?
what connects to it?
connects to appendix
where is popliteal artery / vein?
what describes vein fits this description: It is the longest vein in the body, running along the length of the lower limb
great saphenous vein
what is name of disease for failure of healthy bile acid cycle?
what needs to happen for this to occur?
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 .
name and describe two mutations in CFTR protein that cause CF
what are the drugs used to treat / how work?
- 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.
name two types of antibiotics that interfere with DNA replication in bacteria
- Fluroquinolones: taret topoisomerases in resp. and urinary tract infections
- Trimethoprim: target nucleotide synthesis
what is the antibacterial effect of quinolones on bacteria?
interact with targets: topoisomerase IV and tyrase into toxic enzymes. disintegration of bacteria DNA. death
what are the different types of DNA repair?
- *1. Single strand repairs**
- Base Excision Repair (BER)
- Nucleotide Excision Repair (NER)
- *2. Double strand repairs**
- Homologous recombination (HR)
- Non homologous end joing (NHEJ)
where is the coracoid process and where is the acromonion?
where are the lesser and greater tubercules of humerus?
where is the trochlea and the capitulum of humerus?
where is the superior and inferior vertebral notches?
name a disease that is caused by:
- nucleotide excision repair being affected?
- homologous recombination being affected?
- mismatch repair?
NER: xeroderma pigmentosum: skin cancer
HR: BRCA2 effected - breast cancer
mismatch repair: colon cancer (MutL & MutS damaged)
give example of autosomal recessive disease (x3)
phenylketonuria (PKU)
sickle cell disease
CF
give 3 x-linked dominant traits
goltz syndrome
x-linked poryphyria
fragile x-syndrome
e.g. of x-linked recessive diseases?
hameophilia A andB
Hunter syndrome
Duchenne and Becker MD
which chromosmes udergo crossing in Robertsonian translocation for downs syndrome?
14 and 21
how do u tell difference between where superior and inferior mesenteric veins are located?
what do they go into?
- superior mesenteric vein is located on right
- inferior mesenteric vein is located on left
-into hepatic vein
1: cephalic vein
2: basilic vein
3: median cubital vein
what lies on either side of the third ventricle?
thalamus
what produces CSF in the ventricles of brain?
the choroid plexus
ID the key group of lymph nodes:
- axillary lymph nodes
- inguinal lymph nodes
- cervical lymph nodes
what does 3rd ventricle communicate with 4th ventricle via?
cerebral aqueduct
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
how do the lateral ventricles communicate with the third ventricle?
via the intraventricular foramen
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
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
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
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 Bodies. represents inactive chromsome in female somatic cell. this type of chromatin is called heterochromatin
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
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
role of H1 histone?
histone H1 keeps the keeps the DNA attached to the histones
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
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
which influencing mechanism of the epigenome is inherited?
DNA methylation
what are the epigenetic mechanisms / regulators of epigenome
- DNA methylation-cytosines
- micro and small RNAs
- Histone modification - histones
- chromatin architecture
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
name and explain two imprinting syndromes?
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
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
-
which base pairs can inosine recognise / bind?
A,C,U
what does aminoacyl RNA transfer synthase enzyme do?
adds correct amino acids onto the tRNA, via hydrolysis reaction
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
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
where does transcription of DNA occur?
ATG on Exon 1 !!
role of tata box?
- TATA box: allows RNA polymerase II to orientate correct position on the gene.
what is RNA cap made from? which end?
5’ end: 7-methly guanoside and triphosphate linkage
most commonly amplified oncogene?
c-MYC one
