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Bio300 exam 1 > genetic patho > Flashcards

genetic patho Flashcards

1
Q

genetics

A

study of individual genes

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2
Q

genomics

A

study of all genes in the human genome together, and their interactions with eachother, the environment, influence of psychosocial and cultural factors

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3
Q

epigenetic

A

in addition to changes in genetic sequences

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4
Q

when are chromosomes visible

A

when DNA divides

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5
Q

mitosis

A

cellular reproduction

prophase

metaphase: chromosomes are lined up and easiest to count the #

anaphase

telophase

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6
Q

meiosis

A

cellular reproduction in which gametes are produced

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7
Q

meiosis I vs meiosis II

A

I: is a reduction division reducing 46 chromosomes to 23

II: division is the same as a cellular division

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8
Q

euploid

A

refers to normal number of chromosomes

autosoma cells: carry diploid number of 46 chrom
*22 pairs are autosomal and 1 pair is X or Y sex

gamete contain only 23 (haploid)

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9
Q

DNA

A

sugar deoxyribose and phosphate backbone

ladder of 4 nitrogenous bases

2 purines (thymine & cytosine)
2 pyrimidines (Adenine & guanine)

A-T
G-C always together

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10
Q

gene

A

specific segment of dna that codes for a particular protein

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11
Q

locus

A

specific location on dna which a particular gene is located

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12
Q

Allele

A

different forms of the same gene

each person inherits 2 allels for each gene one from mom and one from dad

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13
Q

genotype vs phenotype

A

genotype: actual nucleotide sequence within dna

phenotype: morphology or outward ecpression of a specific genotype
* influenced by the environment

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14
Q

short arm vs long arm

A

short arm (p)

long arm (q)

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15
Q

karyotype

A

tells you info about chromosomes only
*# and structure

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16
Q

3 mechanisms of altered genetic processes

A

altered chromosomal NUMBER

altered chromosomal STRUCTURE (breaking off)

genetic mutation (altered dna sequence)

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17
Q

aneuploid

A

extra or deleted chromosomes
22 or 24 for gametes
45 or 47 for somatic

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18
Q

polyploid

A

extra sets
(not survivable outside the uterus)
Triploid = 69 chromosomes
Tetraploid = 92 chromosomes

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19
Q

trisomy

A

1 extra copy of chromosomes

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20
Q

monosomy

A

only one copy of chromosome (missing one)

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21
Q

main cause of aneuploidy

A

nondisjunction

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22
Q

nondisjunction

A

failure of seperation of chromosomes during cellular reproduction

either during a mitotic cell division or during either phase of meiosis

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23
Q

mosaic aneuploidy

A

the duplication or deletion of genetic material is not present in all the cells
(making it less severe)

this happens due to nondisjuntion after fertilization but before birth

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24
Q

autosomal aneuploidy can occur due to 2 things

A
  1. nondisjunction during meiosis
    *aneuploidy will be present in all cells
  2. mitotic nondisjunction during embryonic or fetal periods (after fetilization but before birth)
    *results in mosaic aneuploidy (not present in all cells)
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25
Q

are autosomal monosomies survivable out of the uterus

A

no

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26
Q

trisomy 21 (autosomal aneuploidy)

A

down syndrome (most common with the best prognosis)

risk of trisomy 21 increases with increasing maternal age

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27
Q

monosomy turner syndrome

aneuploidy of sex chromosomes

A

femal with a missing X chromosome

*only survivable monosomy

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28
Q

Klinefelter syndrome
trisomy
aneuploidy of sex chromosomes

A

male with extra X chromosome

29
Q

when do aneuploidy of sex chromosomes typically occur?

A

meiosis (gamete production)

30
Q

2.altered chromosome structure

A

during meiosis or mitosis cross over of genetic material

it is normal for cross over between paired chromosomes but not two different chromosomes

31
Q

chromosomal deletion

A

chromosomal segment breaks off and is lost

32
Q

chromosomal duplication

A

one chromosome ends up with 2 copies of the same chromosomal segment

33
Q

chromosomal inversion

A

part of the chromosome is turned “upside down”

this alters the pattern of transcription of the DNA bc it reads from one end to the next and if its flipped it will read half backwards

34
Q

chromosomal translocation

A

a chromosomal segment breaks off and attaches to a nonhomologous chromosome

ex: segment of 21 breaks off and attaches to 1
in this case the person would have a partial extra 21 chromosome which can cause a form of down syndrome

35
Q

Cri du Chat syndrome

A

deletion of short arm of chrom 5

microcephaly (small brain)

cardiac defect

36
Q

DiGeorge Syndrome

A

deletion of 11.2 region of long arm of chrom 22

cardiac defects

congential absence or dysfunction of the thymus (effecting t cell maturing) immune dysfunction

congenital hypoparathyroidism

37
Q
  1. genetic mutations
A

mutation: alteration of sequence of the nucleic acid bases in the dna

mutation can be inherited thru the gametes or can be a new mutation

38
Q

what can genetic mutations cause

A

pathophysiological changes if the mutation results in altered protein structure due to new dna sequence coding for it

39
Q

silent mutation
silent substitutions

A

mutation that occurs but the new code still codes for the same Amino Acid

ex UUA mutates to UUG they both code for the same protein

40
Q

GERMLINE MUTATIONS

A

mutation occurs during meiosis and is expressed as a new mutation in the child

41
Q

embryonic mutation

A

mutation during mitotic cellular replication during the embryonic developmental period

*not present in all cells - only the cells that descended from the mutated cell

42
Q

somatic cell mutation

A

occurs during any mitotic cellular replication throughout life

immune system recognize and destroy these but the ones that survive can increase cancer risks

  • this is why when the body is old and loses immune functions your more likely to get cancer bc these mutations arnt destroyed
43
Q

PKU (phenylketonuria)

A

mutation causes clls to be unable to adequately produce a protein enzyme called (phenylalanine hydroxylase)

without the enzyme to breath down phenylalanine into tyrosine we get an over accumulation

*intracellular accumulation from ch 2

44
Q

how is PKU environmental inflence on the phenotype?

A

you can fix it by restricting phenylalanine from the diet

45
Q

Mendelian inheritance patterns

A

ONLY apply to inheritance of single gene mutations

NOT chrom #, Chrom structure or mutations

4 predictable patterns:
-autosomal dominant
-autosomal recessive
-sex-linked dominant
-sex linked recessive

46
Q

autosomal dominant (mutation)

A

alter proteins that are for body structure which can lead to altered function

ex:
neurofibromatosis type 1 (tumor supressor protein)

47
Q

autosomal recessive (mutation)

A

alter proteins that affect function (enzymes, protein channels, specialized carrier models) leading to metabolic dysfunction

ex: PKU, CF, sickle cell anemia

48
Q

X-linked dominant (mutation)

A

very rare pattern

49
Q

x-linked recessive

A

primarily affects males

50
Q

Autosomal dominant disorder
Marfan syndrome

A

connective tissue disorder
altered production of fibrillin

51
Q

autosomal dominant disorder
Neurofibromatosis

A

type 1 NF: more common, high morbitdity, low mortality
*cause benign tumors of peripheral nerves

type 2 NF: less common, causes HEARING LOSS
*causes benign tumors of “schwann cells” and affects the acoustic nerves

type 3 NF: rare called Schwanomatosis
*multiple schwanomas WITHOUT bilateral acoustic tumors

52
Q

Autosomal recessive disorders
Tay-Sachs Disease

A

a lysosomal storage disorder

abnormal accumulation of gangliosides
*causes decline in motor and mental function
fatal in early childhood

53
Q

autosomal recessive disorder
Cystic fibrosis

A

mutation of gene that codes for a protein that functions as a chloride ion channel

the defect of the chloride transport causes thick and dehyrated mucus in lungs, GI tract and sweat glands

54
Q

what does this thick mucus do in CF?

A

obstruct lungs

obstruct pancreas causing malabsorption of nutrition

high sweat chloride levels

55
Q

what is meconium?

A

stool passed by newborn during first bowel movement

thick, sticky, black stubstance

56
Q

how does CF cause meconium ileus?

A

in new borns they have meconium first stool

with CF the thick mucus causes a INTESTINAL OBSTRUCTION

any newborn who fails to have a bowel movement within 24 hours after birth should be evaluated for meconium ileus and CF

57
Q

S/S of CF

A

in infancy may see:

failure to thrive and delayed growth

foul smelling stools

skin taste salty

58
Q

diagnosis of CF

A

US require screening for CF

CF is fatal in early childhood due to resp and cardiac failure

59
Q

x-linked dominant disorder
hypophasphatemic rickets

A

defective protein in the kidney that helps with transport
*this decreases blood phosphate—causing bones to release phosphate and calcium—causing FRAGILE BONES

60
Q

x-linked recessive disorders
Duchenne Muscular Dystrophy

A

alters the production of the protein “dystrophin”

causes muscle wasting in affected males, with loss of ability to walk by age 10-12

death from resp/cardiac failure

61
Q

x-linked recessive disorder
color-blindness
and
hemophilia (type A & B)

A

more common in males

62
Q

genetic imprinting

A

silences DNA

can make it look like the mutation “skipped a generation”

expression depends on whether the mutation is mom or dad side

63
Q

example of genetic imprinting beind affected whether its the mom or dad

mutation in chrm region 15 q11.2-q13

A

mom: angelman syndrom

dad: prader-willi syndrome

64
Q

mutation of mitochondrial DNA

A

inherited only from mom

disorders associated with altered cellular energy production

65
Q

polygenic traits

A

interaction of multiple genes involved in producing the disorder

66
Q

multifactorial inheritance

A

environmental condition also contribute to pathophysiology

-cleft lip and palate

more than one factor affects it not just muations and genes

67
Q

Teratogen

A

environmental agent that produces abnormalities in the fetus

ex: fetal alcohol syndrome

68
Q

fetal alcohol syndrome (FAS)

A

there is no fully same time to drink alcohol

dunctional changes, ehavioal, cognitive issues

microcephaly (small brain)

structural dysmorphic changes

Bio300 exam 1 (8 decks)

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