1-1 (done perm)

Question 1

inflammation is a (good or bad) response to what

Answer 1

beneficial response to tissue necrosis or microorganisms

Question 2

inf - innate or adaptive immune response

Answer 2

innate

Question 3

read: skin puncture/wound leads to subcutaneous infection -> inflammation

Answer 3

-

Question 4

function of leukocytes at site of inf

Answer 4

• eat the invader

- digest necrotic tissue

Question 5

def thoracentesis

Answer 5

removal of fluid from chest

Question 6

redness/erythema and heat is caused by what

Answer 6

inc blood flow to area of infection

Question 7

another name for transmigration

Answer 7

dia pe desis

Question 8

describe what each nucleotide contains

Answer 8

1 deoxyribose (5 carbon sugar)
2 phosphate group
3 nitrogen containing base (purine or pyrimidine)

Question 9

how is DNA packaged

Answer 9

DNA + histones = nucleosome

multiple n = chromatin

Question 10

chromatin is most condensed at what stage

Answer 10

metaphase

Question 11

humans have # genes

base pair

% of base pair encodes proteins (exons)

Answer 11

25,000 genes

3 billion base pair

less than 1.5%

Question 12

read: introns are NOT encoded bc they are intruders

Answer 12

-

Question 13

what about the stuff that’s NOT in the 1.5%

Answer 13

it is repetitive DNA that helps maintain chromosome structure

Question 14

name the types of variants

Answer 14

50% - uncertain significance 
25% - likely benign  
15% - benign 
2% - pathogenic 
1% - likely pathogenic

Question 15

describe types of point mutations

Answer 15

point = single base pair change

nonsense - produces stop codon
mis-sense - make dif protein
silent - even with change, the protein outcome is same

Question 16

insertion/deletion mutations

Answer 16

frameshift

Question 17

describe the tri-nucleotide repeat

Answer 17

norm: repeat of 20 units
error: repeat that is expanded to hundreds of units

Question 18

define epigenetics

Answer 18

external modification of DNA that turns genes on or off BUT don’t change DNA sequence

Question 19

how # chromosomes

Answer 19

46 c

23 pairs

Question 20

how # autosomes

Answer 20

22 autosomes

read: 22 A + 1 pair of sex

Question 21

what do you call the int system for naming karyotypes

give order

Answer 21

ISCN (int system for cytogenetic nomen…)

of chromosomes, sex, first ab, second ab…

Question 22

def monosomy

Answer 22

mono - not paired with a homolog (norm: always have a pair)

exception for ONE case, means death of baby

Question 23

translocation def

Answer 23

Chrom A and Chrom B

one piece from each

Swap piece with each other

Question 24

def unbalanced translocation

Answer 24

when there’s a loss/gain or genetic material

Question 25

what's the name of the DNA stain used in doing a karyotype

Answer 25

Giemsa

Question 26

edema/swelling is caused by inc blood flow or inc permeability

Answer 26

inc perm | more precise, bc the blood needs to go OUT in order for there to be swelling

Question 27

COX 2 inhibitor is the current anti acute INF drug what's the next gen drug that is being dev

Answer 27

lipoxin analogue

Question 28

COX 2 inh inhibits COX, which has lots of downstream results What's the main target of C0X inh

Answer 28

inhibit prostagladin

Question 29

pathway of fever

Answer 29

hypothalamus release PGE2 -> skin VC and more blood to body core -> more blood to score means higher body temp BUT feel chilly

Question 30

what do you call effusion that contains RBC

Answer 30

Serosanguinous

Question 31

suppurative/purulent INF/abcess is accompanied by what kind of necrosis

Answer 31

liquefactive

Question 32

order these from first to last in sequence - monocyte/macrophage - edema - neutrophil

Answer 32

1 edema (first) 2 neutrophil 3 monocyte/macrophage

Question 33

NO, rel by endo cell, causes VD and...

Answer 33

dec adhesion

Question 34

histamine rel trig by serotonin rel trig by

Answer 34

h: IgE binding, complement, cytokin s: exposed collagen and thrombin

Question 35

what plants did Mendel study

Answer 35

pea

Question 36

Sutton conclusion?

Answer 36

Sutton | 1 genes reside on chromosomes (theory is called Chromosomal theory of inheritance)

Question 37

reasons why patient with SAME genotype can have dif phenotype

Answer 37

1 environmental (could be treatment of disease, nutrition growing up, etc)

Question 38

penetrance def

Answer 38

prob of expressing a phenotype given that person has inherited that gene all or none: you can express the disease or not

Question 39

100% penetrance means

Answer 39

100% - manifest disease

Question 40

prob less than 100% means penetrance is

Answer 40

reduced/incomplete

Question 41

age dependent penetrance def

Answer 41

disease that have higher prob of occurrence as age increases

Question 42

pleiotropy def

Answer 42

one gene causes multiple dif, seemingly unrelated phenotypic effects

Question 43

disease ex of pleiotropy

Answer 43

Marfan syndrome - defect in ONE gene: Fibrillin 1 gene affects - -eye - -skeleton - -heart

Question 44

homozygote def

Answer 44

pair of SAME allele at same locus

Question 45

hemizygote def

Answer 45

has only 1 allele ex: XY means HZ for the X read: DIF from heterozygote (Hh)

Question 46

carrier def

Answer 46

clinically UNaffected person who is heterozygous for a deleterious, recessive allele

Question 47

what is a pedigree

Answer 47

graphical rep of family tree using symbols

Question 48

in a pedigree, what is the label for person who presents for evaluation

Answer 48

proband

Question 49

name a disease that is subject to founder effect

Answer 49

``` Tay Sachs (auto recess) very rare except in Ashkenazi Jews or Amish ```

Question 50

why are Y linked diseases uncommon

Answer 50

Y chrom is small (doesn't contain many genes)

Question 51

say the obvious about Y linked diseases

Answer 51

only males affected

Question 52

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

Answer 52

-

Question 53

read: autosomal recessive means you have higher chance of - founder effect - consanguinity

Answer 53

-

Question 54

what are the types of genetic patterns where males and fem are EQUALLY affected

Answer 54

auto dominant or recessive

Question 55

obligate carrier def

Answer 55

someone must have been a carrier

Question 56

methylate which sequence in a DNA sequence when silencing the gene

Answer 56

CpG cytosine-guanosine