extra test 3 questions Flashcards
what does thymine pair with
adenine
the normal chromosome diploid number is
46
what is the symbol for turner syndrome
45 XO
what does spontaneous abortion have as a shape
triangle
what genetically is haemophilia A
X linked recessive
which complement protein in the alternative pathway is associated with auto activation
C3
which pathway is triggered by sugars on pathogen
lectin mannose pathway
oligomers of which protein from the pore through bacterial membranes as part of the membrane attack complex
C9
where would you expect to find iC3b
on the wall of bacterial cell
what is the difference between resting and primed macrophages
primed macrophages express more MHC class 2 and take up larger objects in phagocytosis
what stimulates primed macrophages to be hyperactive
IFN-Y and LPS from gram negative bacteria
which cytokines are released by hyperactive macrophages
TNF IL-1
what molecule on endothelia cells binds to neutrophils
selectin
which Ig is commonly found in the GI tract and respiratory tract
IgA
what are the main three types of T cell
Tc
Th
regulatory T
what does the T cell receptor bind to in activation
binds to antigen MHC complex and CD28
what is clonal deletion
if there is a mistake during development of B cell or T cell then they will trigger themselves to die so that clone dies
what are two roles of glial cells
regulate neurone metabolism and function
repair and recovery from injury
form and regulate blood brain barrier
which cells myelinate in the PNS
schwaan cells
what two factors contribute to negative resting potential
uneven distribution of ions and selective permeability of the membrane
what is a ganglion
cluster of cell bodies in the PNS
which proteins make up the A band
actin and myosin
where are thin filaments anchored
to the Z lines
which proteins count as thin filaments
actin, troponin and tropomyosin
what two things are required for contraction
Ca and ATP
what type of receptor is the nicotinic acetylcholine receptor
voltage gated ion channel
what is a quantum of ACh
vesicle containing ACh
in Lambert eaton syndrome which part of the NMJ is affected
autoantibodies stop Ca influx in presynaptic knob
in myasthenia graves which part of the NMJ is affected
nicotinic receptors are targeted by autoantibodies
what is the role of myosin kinase in smooth muscle
phosphorylates myosin allowing cross brides to occur between actin and myosin
where are pacemaker cells located
SA node
what is hypertrophic cardiomyopathy
abnormal thickening of heart muscle
what is the kayrotype for
down syndrome
edwards syndrome
turners syndrome
trisomy 21
trisomy 18
45 X
what are these conditions
47 XXY
trisomy 13
kleinfelter syndrome
patau syndrome
what are sister chromatids
copies of each chromosomes by replication in meiosis
what is an allele
a variant gene
how many autosomes are there
44 (22 pairs)
how many sex chromosomes are in a gamete
1
what is the name of the cap at the end of a chromosome
telomere
what stage in replication are chromosomes visible from a microscope
metaphase
why do greater number of mutation in children occur with paternal age
greater number of germ cell divisions
what percentage of down syndrome cases are due to all trisomy 21
94%
if a parent has an autosomal dominant condition what are the chance the child will inherit it
1 in 2 as half of the children will inherit the mutation
if both parents are recessive what are the chances the offspring are affected
1 in 4
what is an acquired cytogenetic abnormality
a genetic change associated with neoplastic or cancer diseases
what does a restriction endonuclease do
cuts double stranded DNA at a specific palindromic sequence
what method could you use to identify a mutation
sanger chain termination sequencing
in FISH what does hybridisation mean
base pairing of comp DNA that bind single strands of DNA together
which class of immunoglobulin is secreted in a pentameric form
IgM
the CD4 is a co stimulator in activation of which cells
T helper cells
what happens to t cells in the thymus
positive and negative selection in the medulla
how do APC present antigens
digest antigens in endoscopes and present via MHC class two to a CD4+ t cell
what is the role of NK cells
involved in immunosurveillance
release perforins and trigger apoptosis
express MHC1
cushings disease is used to describe what
an individual with pituitary tumour secreting ACTH
what can be the effect of hypo/hyper thyroid
increased or decreases weight
what does raised LH in a man indicate
primary testicular problem
what are leydig cells do
found in the testicles and produce testosterone
what factors affect absorption
gastrointestinal mobility
particle size
food
what does first pass metabolism involve
a reduction in drug concentration before it reaches systemic circulation
which neurotransmitter do adrenergic receptors respond to
NA
what is atenolol
selective to B1
