2450 wk1 Flashcards

1
Q

what is the smallest functional unit in directing cell function

A

DNA

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2
Q

What does DNA stand for and describe structure

A

DeoxyriboNucleic Acid, structure: phosphoric acid and a deoxyribose sugar make up the backbone and nitrogenous base pairs make up the rungs

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3
Q

name two types of base pairs and what makes them different and which base pair binds with the other

A

purines (adenine and guanine) double carbon rings
pyrimides (cytosine and thymine) single carbon ring
base pair bonding A=T & G=C

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4
Q

func of genes (describe the genes to end product sequence)

A

are groupings of base pairs that are used to form an end product of a protein to dictate cellular funtioning
genes -> amino acids -> polypeptide chains -> proteins

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5
Q

explain the difference b/w gamete and somatic cell

A

gamete- sex cell (reproductive) 1 set of chromosomes (23)

somatic cell- tissue cells that are non-repro and 2 sets of chromo (46)

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6
Q

describe structure of chromosome

A

centromere - center of chromosome
p arm- short arm
q arm- long arm

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7
Q

how is DNA replication accomplished and what is different to the structure used

A

RNA (single stranded version of DNA) is used in replication contains same nitrogenous pairs except thymine is replaced by uracil (A=U G=C)

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8
Q

Location of transcription and steps

A

nucleus, DNA acts as template to make a copy or a compliment base pair (messenger RNA mRNA)

  1. DNA opens up b/c of RNA polymerase (enzyme)
  2. RNA polymerase binds to promoter ( a copy from here) site until it reaches termination sequence
  3. mRNA reads the base in sets of three (codon)
  4. RNA polymerase releases DNA and mRNA leaves nucleus
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9
Q

what are exons and introns

A

exons: sections of the sequence that will express gene
introns: sections that interrupt

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10
Q

what is RNA splicing (give AKA)

A

post-transcriptional modification (AKA) the introns are removed to reveal a mature mRNA molecule

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11
Q

what is translation and where does it occur and what does it use

A

translation is the process that tRNA directs synthesis of polypeptide
occurs on ribosome using rRNA

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12
Q

describe tRNA structure

A

allows for it to complimentarily bind with mRNA (binds to mRNA codon with anti-codon) and has a site for attachment of an amino acid

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13
Q

what are they different protein structures and give description

A

primary (all amino acids assembled) resembles strand of pearls
secondary - twisting
tertiary- folding
quaternary- further building ex:hemoglobin

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14
Q

give an important proof-reading mechanism in translation

A

DNA polymerase

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15
Q

define apoptosis and what condition inactivates this process

A

programmed cell death when a cell realizes that damage has been done to chromosomes or incorrect DNA replication, often inactivated by cancer

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16
Q

define redundant DNA, give AKA and what percentage it makes up of DNA and why it is significant

A

non-coding regions (Desert DNA) 95%, vary in codon sequence from person to person is the part used for identification

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17
Q

what are different types of mutation

A

silent point- makes no difference
missense point- minor or sever problem (sickle cell)
nonsense point- early stop signal, truncated or ineffective protein (large or small problem)
frameshift mutation: insertion, deletion, reading frame shift

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18
Q

what is translocation give example of consequence of this process

A

when one piece of chromosome trades info with another

ex: chronic myelogenous leukemia and philadelphia chromosome

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19
Q

define allele locus heterozygous homozygous

A

allele: alternative form of a given gene (brown blue grey green eyes)
locus: position of a gene on a chromosome
heter: carrying two different alleles for a gene
homo: carrying 2 of the same allele for a gene

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20
Q

define genotype, genome, phenotype, karyotype

A

genotype: a person’s genetic code
genome: complete set of genes in a human,
phenotype: recognizable traits of a particular genotype
karyotype: an individual’s pictorial chromosomal make up

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21
Q

define expressivity penetrance epigenetic

A

expressivity: level that a gene is expressed in a phenotype which can be moderate to severe
penetrance: ability of a gene to represent itself
epigenetic: heritable expression of genes; excluding nucleic acids

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22
Q

mendel’s 2nd law

A

principle of independent assortment: the emergence of one trait will not affect the emergence of another (blue eyes does not mean you will have blonde hair)

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23
Q

mendel’s first law

A

principle of segregation when forming gamete cells each member separates in such a way as to give only one allele to each cell

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24
Q

define autosomal dominant

A

(50% of passing on disease)- in which a person only needs one mutant allele

25
Q

define autosomal recessive give example of disease

A
a disease in which a person needs two mutant alleles
sickle cell (has valine instead of glutamic acid)
26
Q

give an example of a chromosomal disorder

A

down’s syndrome Trisomy 21(having triplet 21 chromosomes)

27
Q

describe x-linked disorders

A

demonstrate characteristic phenotype in males, males are more affected by x-linked recessive diseases than females

28
Q

hemophilia A & B,
Turner’s syndrome,
klinefelter syndrome

A

.hemophilia A classic is result of mutation on x chromosome, manifests absence of protein for blood to coagulate
hemo b: christmas disease lack of factor IX results in mutation in different gene on x chromosome
turners syndrome: partial or complete monosomy (1 x chromo) no period, sterile, webbed neck, redundant skin folds, low hairline, cogenital heart defect
klinefelter syndrome: extra X chromosome boobies, sparse facial hair small testes and no sperm prodxn

29
Q

give an example of complex multifactorial diseases

A

diabetes type 1 : produce altered antigen which the body attacks beta cells associated with chromosome 6
diabetes type 2: associated with approx 24 known gene mutations

30
Q

3 ways cells adapt to internal change

A

size (atrophy/hypertrophy)
number (hyperplasia)
type (metaplasia/dysplasia)

31
Q

define atrophy and what happens

A

decrease in size of cell shrinkage less ER mitochondria, cytoskeleton

32
Q

normal physiological atrophy that occurs b/c of aging

A

thymus sex glands organs, brain

33
Q

what causes pathologic atrophy and examples(5)

A
  1. disuse (long term bed rest)
  2. denervation (paralysis)
  3. endocrine stimulation loss (smaller sex glands)
  4. inadequate nutrition (autophagic vacuoles are increased self digestion)
  5. ischemia or decreased blood flow
34
Q

what is a hypercatabolic state associated with atrophy and a pathology

A

ubiquitin-proteosome pathway: normal process of degrading protein in cytoplasm, in cancer this pathway is deregulated which causes cachexia

35
Q

. what is hypertrophy

A

cell size increase, more protein, not more fluid,

36
Q

3 types of physiologic hypertrophy

A

exercise, compensatory (increase kidney size after removal), hormones (uterine growth)

37
Q

define hyperplasia, give examples

A

increase # of cells, only in cells capable of mitosis, abnormal proliferation of normal cells, endometriosis, benign prostatic hyperplasia, warts, gingival hyperplasia

38
Q

give 2 examples of hyperplasia and hypertrophy both occur

A

uterus and fat cells

39
Q

define metaplasia, give example

A

reversible conversion of one mature cell type to another related cell type example: epithelial cells changing or cell in bronchial lining changing because of smoke

40
Q

define dysplasia

A

atypical cells deranged growth varied size shape and arrangement, caused by chronic inflammation/irritation, is a precursor of cancer

41
Q

intracellular accumulations 3 types

A

in cytoplasm lysosomes or nucleus

  1. norm- freckles nevi (mole) lipofuscin yellow pigment of aging in liver & heart
  2. abnorm endogenous- 2nd degree disorder in metabolism can result in serious changes
  3. abnorm exogenous- carbon lead tatoos
42
Q

3 types accumulations in tissues

A
  1. dystrophic calcification- dying or dead tissue (calcified heart valvae)
  2. metastatic calcification- increase calcium deposits in healthy tissue (renal failure hyperparathyroidism, bone cancer immobility)
  3. gout (accumulated uric acid)
43
Q

most common type of cell injury and etiology and examples

A

hypoxia: decreased o2 at the cell and in tissues
1. decrease o2 in air (high altitude)
2. respiratory decrease in o2 delivery (pneumonia)
3. ischemia decrease in oxygenated blood delivery locally (clot or harding of arteries)
4. anemia (o2 carrying capacity of RBC)
5. edema

44
Q

describe process of cell injury

A

decrease in o2 > decrease atp > Na+/K+ & Na+/Ca+ pumps fail > increase of intracellular Na+ and Ca+ and decrease of intracellular K+ >h2o rushes in > cell swelling > dilation of ER > ribosomes detach

45
Q

give three characteristics of free radical

A
  1. member of reactive oxygen species (ROS)
  2. highly reactive atom or molecule with unpaired electron
  3. unstable, steals or abandons electron from/to another molecule, which causes them to become free radical
46
Q

how do free radicals cause damage

A

initiate hard to control chain rxns that result in injury to cell membrane, DNA or organelles

47
Q

source of free radicals

A

normal processes energy production, food metabolism, inflammation, drug metab, or uv ray exposure

48
Q

func. of antioxidants & two categories & 3 examples

A

block synthesis or inactivate free radicals
internal antiox: superoxide dismutase, glutathione catalase
external antiox: vitamin c & e Beta carotene

49
Q

define: perperfusion (reoxygenation) injury & 3 steps

A

injury do to reoxygenation after hypoxia or anoxia,

  1. ischemia
  2. natural antioxidants inactivated
  3. restoration of blood flow cells confronted with excess free radicals
50
Q

two types of reversible cell injury describe

A

oncosis: formation of vacuoles of h2o

fatty changes: formation of vacuoles of fat

51
Q

describe 5 steps of oncosis

A
  1. Na+/K+/ATPase pump fail
  2. h2o rushes into cell
  3. Er distends and ruptures
  4. coaleces into h2o vacuoles
  5. tissues heavy & pale due to excess h2o
52
Q

fatty change 5 statements

A
  1. detox of chemicals in smooth ER
  2. formation of fats that accumulate in cell
  3. liver heart kidneys mostly affected
  4. tissues become heavy and pale due to excesss fat
  5. reversible if the cause is treated
53
Q

3 types of cell death

A

apoptosis, necrosis, gangrene

54
Q

define apoptosis and steps in process

A

controlled autodigestions of cell components

  1. cell shrinkage
  2. membrane blebbing (wrinkling)
  3. disrupted cytoskeleton
  4. condensed organelles & clumped DNA
  5. apoptotic bodies
  6. lysis
55
Q

define gangrene

A

death to tissues involving a considerable mass

56
Q

dry gangrene process and characteristic

A
interrupted arterial supply
tissue dies and dries up
shrinks and turns black
occurs in superficial tissues of periphery
result of coag necrosis
line of demarcation
57
Q

define necrosis 4 types and most common tissuues affected

A

unregulated loss of membrane integrity, inflammatory reponse, interfering with cell replacement and tissue regeneration

  1. liquefactive: abcess (brain)
  2. coagulative cardiac muscles kidneys adrenal glands (liquefac and coag combo)
  3. caseous: TB lung
  4. fat: breast pancreas other ab areas
58
Q

wet gangrene process and characteristics

A

results from interrupted venous return
bacteria accumulate
-affected site is cold, swollen, foul odor
- could be black
-can occur in internal organs & extremities
- no line of demarc

59
Q

gas gangrene process and characteristics

A

clostridium perfringens in that cause gas bubbles (hydrogen sulfide)
dissolve cell membranes
edema hemolysis anemia and renal failure