more principles formative Flashcards
what controls vasomotor tone
sympathetic NS
what is vascular smooth muscle predominantly supplied by
sympathetic
in the heart what NS dominates under resting conditions
parasympathetic
a man with x-linked becker muscular dystrophy has a son - what is the likelihood that his son is affected by the condition
0%
x-linked dominant - ie daughters will get but not sons
when is chromosomal microarray analysis useful
chromosomal imbalance - ie downs 47 XX +21
offers greater genetic resolution
when is PCR useful
identifying specific point mutations ie when you know exactly where you’re looking
when is NGS useful
sequencing of both child and parents to find de novo variants
which genetic test is quick and cheap
chromosomal microarray analysis - NGS is better but more expensive
mosaicism
post zygotic mutation
Mendelian disorders
disease caused by a single gene change - very highly penetrant
mitochondrial inheritance
only from the mother
c.
mRNA change
p.
amino acid change
transcripts are being analysed - what is the material analysis being performed on
RNA ie RNA polymerase for transcription
a woman is affected by an x-linked recessive disorder - why ?
skewed x inactivation
which molecules are responsible for regulating thermostat in fever
prostaglandins - hypothalamus
what type of antibodies can activate mast cells
IgE
which acute phase protein can assist in diagnosis and monitoring of infectious and inflammatory disease
CRP
- has a short-lived nature
- is radially produced
which lab technique is best suited to monitor viral load in patients blood (RNA)
PCR ie for HIV
which lab technique best suited to the analysis of lymphocyte subsets ?
immunophenotyping - investigates the pattern of antigen expression on or in cells through a panel of antibodies
which antimicrobial protein is secreted by epithelial cells at mucosal surfaces
defensin - cysteine rich cationic proteins that can bind to microbial cell membranes
how does the MAC work
can directly lyse pathogen via membrane insertion and osmotic lysis