IMMS Flashcards
What is euchromatin?
Loosely packed chromosomes. Hyper accessible chromatin so genes activatable. It is unmethylated DNA.
What is heterochromatin?
Tightly packed chromosomes. DNA inaccessible to transcription factors. Silent genes.
Exon shuffling allows…
New proteins to be made e.g. in immune system
What does splice site mutation affect?
Accurate intron removal affected
What is non-sense mediated decay?
Pathway which removes mRNA with premature stop codons
Define ALLELIC HETEROGENEITY
Lots of different mutations in one gene e.g. cystic fibrosis
Define Locus Heterogeneity
Mutations in different genes give the same clinical condition e.g. hypertrophic cardiomyopathy
What is Dominant-negative mutations?
Where the protein from the mutant allele interferes with the protein from the normal allele.
E.g. a dimer where one mutant and one normal allele would result in only 25% normal dimers
What is cytoskeleton
Filament proteins supporting structure of cell
What is lipofuscin?
Lipid containing residues in post mitotic cells e.g. in heart, liver, nerve cells
What does cholesterol do in the cell membrane?
Cholesterol provides some rigidity to the free flowing phospholipid bilayer
Some uses of actin in body
1) They maintain the internal structure of cells
2) They are in adherens junctions which joins actin bundles between neighbouring cells
3) Actin - myosin proteins used in muscles for contraction
What are lipid rafts
Areas were there are high cholesterol and more saturated fatty acids than usual in cell membranes.
Types of endocytosis
1) Phagocytosis
2) Pinocytosis
3) Receptor mediated e.g. depressed areas - coated pits
What % of total body weight is water, and the average volume of water in a 70kg male.
60% of Total Body Weight is water
Which is 42L of a 70kg man
What percentage of body weight is Intracellular?
40% (28L)
What percentage of total body water is Extracellular fluid?
35% of total body water
What is the percentage of total body water is intravascular? Give an average volume of plasma in a 70kg male.
7% of total body water
3L in a 70kg man
What is the average volume of interstitial fluid in a 70kg male?
11L
2 components making up extracellular fluid
1) Blood plasma/Intravascular
2) Interstitial
Transcellular (mucus/CSF…)- maybe
Define Osmolality
Measure of the number of the osmoles of solute per kilogram of solvent (Osm/kg)
Define Osmolarity
The number of osmoses of solute per litre of solvent/solution (Osm/L)