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Biochem BLOCK 4 > Younger Review > Flashcards

Younger Review Flashcards

1
Q

CDNA library

A
  • MRNA at time of harvesting
  • expression of gene at specific time
  • uses reverse transcription to change RNA to DNA
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2
Q

DNA library

A

-all sequenced of a genome (introns, coding regions, etc)

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3
Q

ELISA

A
  • sensitive
  • could be bad because it gives false positives because of sensitivity
  • can feel positive about negative results
  • check positives with a western blot (more specific)
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4
Q

What kind of probe does ELISA use?

A

Antigen

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5
Q

Long probe

A

Not specific, used for identifying

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6
Q

Short probe

A

Very specific

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7
Q

ASO

A
  • allele specific oligo probe
  • short
  • specific
  • recognize allele for mutation such as cystic fibrosis
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8
Q

Southern blot

A

DNA

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9
Q

Northern blot

A

RNA (MRNA)

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10
Q

Western blot

A

Analysis of protein

-quantitative

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11
Q

What kind of probe is used in western blot

A

Antibody specific to the protein of interests

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12
Q

What materials need to be denatured first before they can be blotted?

A

Protein and DNA

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13
Q

What are the different types of RFLPs?

A

SNPs

VNTRs

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14
Q

RFLPS

A
  • change in nucleotide sequence somewhere in genome.
  • make or abolish a fragment
  • can be used for fingerprinting
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15
Q

VNTRs

A
  • Fragment is longer than normal
  • can test for early detection
  • Huntington’s
  • fragile X
  • anticipation
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16
Q

What are the 3 thermocycle steps in PCR

A
  • denature
  • anneal
  • elongation
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17
Q

What are the advantages of PCR to DNA cloning?

A

Less time
Less cost
Minute amounts of DNA required

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18
Q

DdNTP

A

Stop elongation

Used in cancer treatments

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19
Q

Microarray

A
  • contain thousands of immobilized sequence (probes) on glass slides
  • mRNA levels
  • compare cancer to normal on a color probe
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20
Q

Why do ASO probes have a relatively low utility for diagnosis of diseases such as PKU due to the multitude of possible mutations that can affect the gene and cause the disease

A

ASO is generally used for a single gene mutation (3 nucleotide change)
-PKU has so many different possibilities for mutations so ASO is too specific for this

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21
Q

What are VNTRs used as?

A
  • molecular fingerprints
  • paternity testing
  • uses PCR
  • different VNTRs have a different paternity index, paternity cases always require several different VNTRs be used
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22
Q

Recurrence risk

A
  • probability that offspring of a couple will have the genetic disease
  • each reproductive event is statistically independent of all previous events
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23
Q

If 25% of offspring have diseases, its usually

A

Autosomal recessive

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24
Q

If 2 recessive heterozygous people are mating, what is the chance of their offspring having it

A

25%

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25
Q

Dominant heterozygous likelihood for offspring

A

75%

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26
Q

What are the 2 general types of autosomal dominant single gene disorders

A
  • loss of function (phenotype)

- gain of function (toxic)

27
Q

What gene is defected in neurofibromatosis type 1

A

Mutation in a cell cycle regulatory protein

28
Q

What type of disorder is neurobibromatosis type 1

A

Autosomal dominant

29
Q

An important genetic concept that is epitomized by neurofibromatosis type 1 is

A

Variable expression, hallmark

30
Q

What ia a clinical diagnostic clue for neurofibromatosis type 1

A

Lisch nodules

31
Q

What type of disorder is Marfan syndrome

A

Autosomal dominant

32
Q

What gene is defective in Marfan syndrome

A

A mutation in the fibrillin gene

33
Q

Marfan syndrome is a good example of a genetic principle called

A

Pleiotropy-when a single mutation affects multiple organ systems a common feature of many genetic diseases

34
Q

What are the ocular abnormalities of marfan syndrome

A

Myopia and detached lens

35
Q

What kind of disorder is thalassemias

A

Autosomal recessive

36
Q

When gene is defective in thalassemias

A

Imbalance in globin chain synthesis

37
Q

What is the most common single gene disorders group in the world

A

Thalassemias

38
Q

Types of thalassemias

A
  • alpha-insufficient synthsis of a chain

- beta-insufficient syntheiss of b chain

39
Q

What is a good thing about thalassemias

A

Malaria resistance

40
Q

Gene defect for hemophilia A and B

A

Blood clotting factors

41
Q

What kind of disorder is hemophilia A and B?

A

X linked

42
Q

What is the most frequent cause of death in hemophilia?

A

AIDs
-when they get blood transfusions, in order to protect the clotting factors in the blood the donor blood cant be treated for viruses, so AIDs sometimes will be present in the transfusion

43
Q

Why can some female heterozygotes with one mutant X chromosome show symptoms of an X linked recessive disease

A

X inactivation

44
Q

Rare cases of single gene disorders that do not manifest until later in life

A

Delayed age of onset

45
Q

What are two examples of delayed age of onset

A
  • Huntington’s

- myotonic dystrophy

46
Q

When the same disease phenotype can be caused by mutations in different loci

A

Locus heterogeneity

47
Q

What is an example of locus heterogeneity

A

Ehlers-Danlos Syndrome (EDS)

48
Q

What kind of disorder is EDS

A

Can display several different inheritance patterns :Autosomal dominant, autosomal recessive, X linked

49
Q

EDS autosomal dominant is a mutation in what

A

Collagen genes

50
Q

EDS autosomal recessive is a mutation in what

A

Lysyl hydroxylase

51
Q

EDS linked is a mutation in what

A

Copper binding protein

52
Q

All genetic diseases being with this. In cases with high mortality or low fertility, it is often due to this. Immediately show up in pedigree

A

New mutation

53
Q

Refers to diseases where the most recent generations of affected individuals show earlier onset and more severe symptoms than previously generations

A

Anticipation

54
Q

What is anticipation usually associated with

A

Diseases causes by trinucleotide repeat expansions (Huntington’s, fragile x, myotonic dystrophy)

55
Q

What is the most common genetic (inherited) cause of cognitive/mental impairment

A

Autism (fragile X)

56
Q

What is another name for x inactivation

A

Lyonization

57
Q

Inactive x chromosome can be observed by EM as a highly condensed ________ in the nuclei of interphase cells

A

Barr body

58
Q

Recessive alleles can be concentrated in populations due to natural selection through a selective process termed ________

A

Heterozygote advantage

59
Q

Occurs in populations with finite population size. Can be particularly rapid in small populations

A

Genetic drift

60
Q

Relatively rare alleles are present in higher abundance in a small isolated population that goes on to colonize an area

A

Founder effect

61
Q

Example of founder effect

A

More cases of ellis can crevald disease are seen in old order amish than the rest of the world

62
Q

What kind of inherited disease is ellis van crevald

A

Rare autosomal recessive

63
Q

What is the defective gene in ellis can crevald

A

Caused by a defective EVC gene, unknown function

Biochem BLOCK 4 (11 decks)

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