1-1 (done perm) Flashcards
inflammation is a (good or bad) response to what
beneficial response to tissue necrosis or microorganisms
inf - innate or adaptive immune response
innate
read: skin puncture/wound leads to subcutaneous infection -> inflammation
-
function of leukocytes at site of inf
- eat the invader
- digest necrotic tissue
def thoracentesis
removal of fluid from chest
redness/erythema and heat is caused by what
inc blood flow to area of infection
another name for transmigration
dia pe desis
describe what each nucleotide contains
1 deoxyribose (5 carbon sugar)
2 phosphate group
3 nitrogen containing base (purine or pyrimidine)
how is DNA packaged
DNA + histones = nucleosome
multiple n = chromatin
chromatin is most condensed at what stage
metaphase
humans have # genes
base pair
% of base pair encodes proteins (exons)
25,000 genes
3 billion base pair
less than 1.5%
read: introns are NOT encoded bc they are intruders
-
what about the stuff that’s NOT in the 1.5%
it is repetitive DNA that helps maintain chromosome structure
name the types of variants
50% - uncertain significance 25% - likely benign 15% - benign 2% - pathogenic 1% - likely pathogenic
describe types of point mutations
point = single base pair change
nonsense - produces stop codon
mis-sense - make dif protein
silent - even with change, the protein outcome is same
insertion/deletion mutations
frameshift
describe the tri-nucleotide repeat
norm: repeat of 20 units
error: repeat that is expanded to hundreds of units
define epigenetics
external modification of DNA that turns genes on or off BUT don’t change DNA sequence
how # chromosomes
46 c
23 pairs
how # autosomes
22 autosomes
read: 22 A + 1 pair of sex
what do you call the int system for naming karyotypes
give order
ISCN (int system for cytogenetic nomen…)
of chromosomes, sex, first ab, second ab…
def monosomy
mono - not paired with a homolog (norm: always have a pair)
exception for ONE case, means death of baby
translocation def
Chrom A and Chrom B
one piece from each
Swap piece with each other
def unbalanced translocation
when there’s a loss/gain or genetic material
what’s the name of the DNA stain used in doing a karyotype
Giemsa
edema/swelling is caused by inc blood flow or inc permeability
inc perm
more precise, bc the blood needs to go OUT in order for there to be swelling
COX 2 inhibitor is the current anti acute INF drug
what’s the next gen drug that is being dev
lipoxin analogue
COX 2 inh inhibits COX, which has lots of downstream results
What’s the main target of C0X inh
inhibit prostagladin
pathway of fever
hypothalamus release PGE2 -> skin VC and more blood to body core -> more blood to score means higher body temp BUT feel chilly
what do you call effusion that contains RBC
Serosanguinous
suppurative/purulent INF/abcess is accompanied by what kind of necrosis
liquefactive
order these from first to last in sequence
- monocyte/macrophage
- edema
- neutrophil
1 edema (first)
2 neutrophil
3 monocyte/macrophage
NO, rel by endo cell, causes VD
and…
dec adhesion
histamine rel trig by
serotonin rel trig by
h: IgE binding, complement, cytokin
s: exposed collagen and thrombin
what plants did Mendel study
pea
Sutton conclusion?
Sutton
1 genes reside on chromosomes (theory is called Chromosomal theory of inheritance)
reasons why patient with SAME genotype can have dif phenotype
1 environmental (could be treatment of disease, nutrition growing up, etc)
penetrance def
prob of expressing a phenotype given that person has inherited that gene
all or none: you can express the disease or not
100% penetrance means
100% - manifest disease
prob less than 100% means penetrance is
reduced/incomplete
age dependent penetrance def
disease that have higher prob of occurrence as age increases
pleiotropy def
one gene causes multiple dif, seemingly unrelated phenotypic effects
disease ex of pleiotropy
Marfan syndrome
- defect in ONE gene: Fibrillin 1 gene affects
- -eye
- -skeleton
- -heart
homozygote def
pair of SAME allele at same locus
hemizygote def
has only 1 allele
ex: XY means HZ for the X
read: DIF from heterozygote (Hh)
carrier def
clinically UNaffected person who is heterozygous for a deleterious, recessive allele
what is a pedigree
graphical rep of family tree using symbols
in a pedigree, what is the label for person who presents for evaluation
proband
name a disease that is subject to founder effect
Tay Sachs (auto recess) very rare except in Ashkenazi Jews or Amish
why are Y linked diseases uncommon
Y chrom is small (doesn’t contain many genes)
say the obvious about Y linked diseases
only males affected
read: autosomal dominant is associated with
- variable expressivity
- penetrance
- pleiotrophy
why: Aa - you can vary the influence of each whereas aa, it is much less imp the influence of each
-
read: autosomal recessive means you have higher chance of
- founder effect
- consanguinity
-
what are the types of genetic patterns where males and fem are EQUALLY affected
auto dominant or recessive
obligate carrier def
someone must have been a carrier
methylate which sequence in a DNA sequence when silencing the gene
CpG
cytosine-guanosine
