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Block 5 > 1-1 (done perm) > Flashcards

1-1 (done perm) Flashcards

1
Q

inflammation is a (good or bad) response to what

A

beneficial response to tissue necrosis or microorganisms

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2
Q

inf - innate or adaptive immune response

A

innate

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3
Q

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

A

-

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4
Q

function of leukocytes at site of inf

A
  • eat the invader

- digest necrotic tissue

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5
Q

def thoracentesis

A

removal of fluid from chest

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6
Q

redness/erythema and heat is caused by what

A

inc blood flow to area of infection

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7
Q

another name for transmigration

A

dia pe desis

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8
Q

describe what each nucleotide contains

A

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

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9
Q

how is DNA packaged

A

DNA + histones = nucleosome

multiple n = chromatin

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10
Q

chromatin is most condensed at what stage

A

metaphase

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11
Q

humans have # genes

base pair

% of base pair encodes proteins (exons)

A

25,000 genes

3 billion base pair

less than 1.5%

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12
Q

read: introns are NOT encoded bc they are intruders

A

-

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13
Q

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

A

it is repetitive DNA that helps maintain chromosome structure

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14
Q

name the types of variants

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

describe types of point mutations

A

point = single base pair change

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

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16
Q

insertion/deletion mutations

A

frameshift

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17
Q

describe the tri-nucleotide repeat

A

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

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18
Q

define epigenetics

A

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

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19
Q

how # chromosomes

A

46 c

23 pairs

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20
Q

how # autosomes

A

22 autosomes

read: 22 A + 1 pair of sex

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21
Q

what do you call the int system for naming karyotypes

give order

A

ISCN (int system for cytogenetic nomen…)

of chromosomes, sex, first ab, second ab…

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22
Q

def monosomy

A

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

exception for ONE case, means death of baby

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23
Q

translocation def

A

Chrom A and Chrom B

one piece from each

Swap piece with each other

24
Q

def unbalanced translocation

A

when there’s a loss/gain or genetic material

25
Q

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

A

Giemsa

26
Q

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

A

inc perm

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

27
Q

COX 2 inhibitor is the current anti acute INF drug

what’s the next gen drug that is being dev

A

lipoxin analogue

28
Q

COX 2 inh inhibits COX, which has lots of downstream results

What’s the main target of C0X inh

A

inhibit prostagladin

29
Q

pathway of fever

A

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

30
Q

what do you call effusion that contains RBC

A

Serosanguinous

31
Q

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

A

liquefactive

32
Q

order these from first to last in sequence

  • monocyte/macrophage
  • edema
  • neutrophil
A

1 edema (first)
2 neutrophil
3 monocyte/macrophage

33
Q

NO, rel by endo cell, causes VD

and…

A

dec adhesion

34
Q

histamine rel trig by

serotonin rel trig by

A

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

35
Q

what plants did Mendel study

A

pea

36
Q

Sutton conclusion?

A

Sutton

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

37
Q

reasons why patient with SAME genotype can have dif phenotype

A

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

38
Q

penetrance def

A

prob of expressing a phenotype given that person has inherited that gene

all or none: you can express the disease or not

39
Q

100% penetrance means

A

100% - manifest disease

40
Q

prob less than 100% means penetrance is

A

reduced/incomplete

41
Q

age dependent penetrance def

A

disease that have higher prob of occurrence as age increases

42
Q

pleiotropy def

A

one gene causes multiple dif, seemingly unrelated phenotypic effects

43
Q

disease ex of pleiotropy

A

Marfan syndrome

  • defect in ONE gene: Fibrillin 1 gene affects
  • -eye
  • -skeleton
  • -heart
44
Q

homozygote def

A

pair of SAME allele at same locus

45
Q

hemizygote def

A

has only 1 allele
ex: XY means HZ for the X

read: DIF from heterozygote (Hh)

46
Q

carrier def

A

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

47
Q

what is a pedigree

A

graphical rep of family tree using symbols

48
Q

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

A

proband

49
Q

name a disease that is subject to founder effect

A 
Tay Sachs 
(auto recess) 
very rare except in Ashkenazi Jews or Amish
50
Q

why are Y linked diseases uncommon

A

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

51
Q

say the obvious about Y linked diseases

A

only males affected

52
Q

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

A

-

53
Q

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

A

-

54
Q

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

A

auto dominant or recessive

55
Q

obligate carrier def

A

someone must have been a carrier

56
Q

methylate which sequence in a DNA sequence when silencing the gene

A

CpG

cytosine-guanosine

Block 5 (6 decks)

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