Phase 1 ILAs Flashcards
What does SNP stand for? (genetics)
Single nucleotide polymorphism
What is a SNP?
DNA sequence variation when a single nucleotide differs between people
What affect can SNPs have?
Can change codon, which can change protein, can create disease e.g. sickle cell/cystic fibrosis
What is primary protein structure?
Chain of amino acids joined by covalent bonds
What is secondary protein structure?
Alpha helices, beta pleated sheets, H+ bonds
What is tertiary protein structure?
3D structure of an a.a. chain, can have VdW, H+ bonds, ionic, disulfide bridges, electrostatic attraction
What is quaternary protein structure?
Several a.a. chains joined together-3D structure of a polypeptide
What are the subunits of haemoglobin?
2 alpha, 2 beta
Normal adult haemoglobin is HbA, what does it change to in sickle cell anaemia?
HbS
What codon change happens in sickle cell + on what nucleotide?
GAG to GTG on 17th nucleotide
Is sickle cell dominant or recessive?
Autosomal recessive
If one, or both parents have sickle cell, what is the chance their offspring will also have the condition?
2 parents-1/4 chance offspring has sickle cell
1 parent-50/50 chance of offspring being carrier
Name 4 functional changes for someone living with sickle cell
Lower O2 affinity
Shorter erythrocyte lifetime
Erythrocytes can get stuck in blood vessels
Reduced delivery of O2 to muscles
What is the first stage of protein synthesis?
Transcription
What happens in transcription?
- DNA supercoil unwound by topoisomerase
- DNA helicase breaks H+ bonds + exposes nucleotides
- Single stranded binding proteins stop DNA strands reannealing
- RNA polymerase binds at TATA promoter region, moves in a 3’ to 5’ direction
- RNA polymerase adds nucleotides until stop codon is reached-producing mRNA strand
What happens in splicing?
Introns are removed
What are introns?
Non-coding DNA segments
What happens in translation?
- mRNA binds to ribosome
- tRNA, carrying an amino acid, binds to ribosome
- tRNA anticodon binds to complementary mRNA
- Peptide bond forms between adjacent amino acids
- Polypeptide chain is formed when stop codon is reached
What are the 3 stages of translation?
Initiation, elongation, termination
Where are osmoreceptors located?
Hypothalamus
What do osmoreceptors do?
Detect low blood water potential, causing stimulation of hypothalamus nerve cells + triggering the release of ADH from the pituitary
What does ADH act on + what does it do?
Acts on kidneys + increases fluid retention
Where is albumin produced?
Liver
How does albumin contribute to oncotic pressure?
Helps maintain concentration gradient + create oncotic pressure
What is insensible water loss?
Total amount of fluid lost daily from the lungs, skin, respiratory tract + faeces-40-800 ml in an adult
What does insufficient H2O in the body do to blood volume?
Decreases blood volume
What does insufficient H2O in the body do to blood osmolality?
Increases blood osmolality
What is the pathway for response to dehydration?
- Insufficient H2O in blood causes decrease in blood volume
- Decreases blood pressure
- Increases angiotensin II
- Stimulates thirst centre in hypothalamus
- Increases thirst
- H2O taken in
- Blood osmalality decreases
In an average 70kg male what is the total body water?
42L-60% of body weight
In an average 70kg male what is the ratio of ICF to ECF?
65:35, 28L:14L
In an average 70kg male how much interstitial fluid is there?
11L
In an average 70kg male how much plasma fluid is there?
3L
How is sodium contained in the body?
70%=exchangeable
30%=stored in bone crystal
ECF contains 50%, ICF contains 5%
What reaction does renin catalyse?
Angiotensinogen–>Angiotensin I
Which enzyme catalyses the reaction from angiotensin I to angiotensin II?
ACE
What does angiotensin cause?
Thirst
Vasoconstriction
Na+ reabsorption
What does aldosterone cause?
Na+ reabsorption
K+ excretion
Water retention
What activates renin?
Low blood pressure
What inhibits renin?
Angiotensin II
Vasopressin
ANF (atrial natriuretic factor)
How do you calculate cardiac output?
CO=HR x SV
What factors affect heart rate?
Autonomic innervation
Hormones
Fitness levels
Age
How do you calculate stroke volume?
SV= EDV (end diastolic volume) - ESV (end systolic volume)
What factors affect stroke volume?
Contractility
Preload
Afterload
Heart size
Fitness level
Gender
Duration of contraction
Define preload
Degree of myocardial distension prior to shortening
Define afterload
Force against which ventricles must act in order to eject blood
What areas does the LAD supply?
Anterior 2/3 of interventricular septum
Lateral wall of left ventricles
Anterolateral papillary muscle
What can occlusion of LAD cause?
Left/right heart block-when the impulse contraction between atria + ventricles is blocked
What areas does the RCA supply?
SAN + AVN
What can occlusion of the RCA cause?
Affects nodes, irregular rhythm of contraction, inefficient blood flow + potential backflow
How do you calculate blood pressure?
BP=CO x TPR (total peripheral resistance-amount of force exerted on circulating blood by the vasculature of the body)
What affects blood pressure?
Vasopressin, Aldosterone, ANP, Haemorrhage, Sweating, Stressors, Hydration, Weight, Muscular activity, Posture
How do you calculate pulse pressure?
PP=SP (systolic pressure) - DP (diastolic pressure)
How do you calculate mean arterial pressure?
MAP=DP (diastolic pressure) + 1/3PP (pulse pressure)
What does the Frank-Starling relationship show?
The effects of heart failure on stroke volume + ventricular preload
What causes the ‘lub’ sound?
Closing of AV valve
What causes the ‘dub’ sound?
Closing of the semilunar valves
Where is the greatest resistance to flow in the airways?
Segmental bronchi