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MCB1 Block 4 > Molecular Diagnostics > Flashcards

Molecular Diagnostics Flashcards

1
Q

All DNA technologies rely on what?

A

DNA & hybridization

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2
Q

If you heat DNA molecule, what will happen to DNA strand?

A

Denature

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3
Q

what happens to a denatured DNA molecule if you cool it down?

A

Renature

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4
Q

What is nucleic acid hybridization?

A

Heat and denature, cool and renature, can combine two different DNA strands

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5
Q

Name a few different types of lables

A

radioactive, fluorescent, enzymatic, etc.

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6
Q

What is the function of the probe?

A

Detect target DNA with sequence we are interested in

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7
Q

One strand of probe will bind to what in hybridization assay?

A

one strand of target DNA (they are complementary to each other)

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8
Q

What is non-productive in Hybriization?

A

two probes reanneal with each other and two DNA strands reanneal

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9
Q

What do you want to maximize in hybridization?

A

probe-target binding

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10
Q

What is hybridization Stringency

A

how “strict” you are when you allow hybridization to occur. the degree we tolerate or don’t tolerate mismatches

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11
Q

the higher the stringency, the:

A

fewer the mismatches we tolerate

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12
Q

when would you want to use low stringency?

A

finding genes part of gene family, that are similar but no identical

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13
Q

Usually in diagnostics, what kind of stringency is used

A

high

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14
Q

how do you control stringency?

A

temperature, salt concentration, denaturing agents

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15
Q

The higher the temperature

A

the higher the stringency

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16
Q

the lower the salt concetnration

A

the higher the stringency

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17
Q

the higher the concentration of denaturing agents

A

the higher the stringency

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18
Q

Why is DNA preferred as probe over RNA

A

more stable than RNA

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19
Q

main application of northern blotting

A

gene expression

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20
Q

why is southern blotting used more than western for MDs?

A

for western have to get protein sample - ex: if they have liver problem difficult and invasive to get liver sample

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21
Q

Detect DNA bands of a ____ _____ and determine their size

A

specfici sequence

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22
Q

Detect DnA bands of a speficif sequence and determine their ___

A

size

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23
Q

What does semi-quantitative mean?

A

the intensity of the band refelcts the amount of the target DNA prsent

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24
Q

Southern blotting can tell us what about the DNA (generally?)

A

size & how much DNA

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25
Q

DNA samples from different tissues, skin & liver and ran on gel, would southern blot show differences b/w the tissues?

A

No, genomic DNA doesn’t change from tissue to tissue

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26
Q

Would you use Southern blotting to look at differences b/w tissue?

A

No, genomic DNA doesn’t change b/w tissues

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27
Q

What are southern blots used for?

A

discriminate b/w alleles - get genotype of pt

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28
Q

How is DNA separated on for southern blot?

A

size

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29
Q

RFLP stands for what

A

restriction fragment length polymorphism

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30
Q

What is an RFLP

A

polymorphism in a restriction site in the genomic DNA

31
Q

what is a polymorphism

A

sequence variant b/w individuals (at least 1% of pop. must have variant for it to be polymorphism)

32
Q

What does SNP stand for

A

single nucleotide polymorphism

33
Q

What is a SNP

A

single base change b/w people

34
Q

vast majority of polymorphisms are what?

A

SNPs

35
Q

Most RFLPs are a SNP within what?

A

a palindrome

36
Q

Southern blotting has largely been replaced by what

A

PCR

37
Q

When you get a map, pay attention to where the probe

A

hybridizes to

38
Q

When do you do southern blot on alleles you will always see

A

two - we all have two alleles

39
Q

Before you use a RFLP with a mutatnt you have to know what?

A

where the mutation is

40
Q

What is pedigree specific when you are looking at RFLP?

A

where the mutation is. it will be different b/w different families and pedigrees

41
Q

Just because husband and wife has the same allele does not mean

A

they both have the disease

42
Q

When doing a RFLP problem pay special attention to where what is and why?

A

probe - that will be the only part that will appear on the blot. so even if restriction enzymes cut multiple sites, the only sites that will be shown are where the probe binds

43
Q

For males how many alleles would they have for x linked diseases?

A

1 - males only have one x chrom.

44
Q

a deletion or insertion b/w two restriction sites can cause an

A

RFLP

45
Q

a chromosomal rearrangement can cause a

A

RFLP

46
Q

Name all the ways you can get RFLP

A

a chromosomal rearrangement can cause a ,
a deletion or insertion b/w two restriction sites can cause an
creation or loss of restriction site due to SNP or mutation

47
Q

What is cephalohematoma

A

lump under the skin on scalp

48
Q

What are the two main types of hemophilia?

A

A & B

49
Q

What is the most common type of hemophilia?

A

A

50
Q

Where is the mutation in Hemophilia A?

A

Factor VIII gene (F8 gene)

51
Q

Where is mutation in hemophilia B?

A

Factor IX (F9 gene)

52
Q

What is mode of inheritance for hemophilia?

A

X-linked

53
Q

what is the ultimate cause of hemophilia? what causes lack of blood clotting

A

fibrin isn’t produced

54
Q

Symptoms: prolonged bleeding times, easy brusing, hemorrahge into joins and muscle is what disease?

A

hemophilia

55
Q

What does hemophilia mild peresnt as?

A

Not as bad, not as much bleeding

56
Q

What does hemophilia severe present as?

A

bleeding all the time, need blood transfusions

57
Q

In the milder form of hemophilia, why is it more mild?

A

residual protein function

58
Q

In the severe version of hemophilia, why is it more severe?

A

little or no protein function

59
Q

What kind of mutation would lead to severe hemophelia?

A

nonesense, frameshift, complete deletion

60
Q

What kind of mutation would lead to milder form of hemophilia?

A

missense (single aa changes)

61
Q

What is the treatment for hemophilia A?

A

transfusion of purified/recombinant F8

62
Q

40% of severe hemophilia A cases are cuased by what?

A

inversion

63
Q

How do inversions occur usually in hemophilia?

A

homologous recominbation b/w repetitve lements proximal to the F8 gene

64
Q

Why can you not use a PCR to detect the inversions that cause hemophilia?

A

All the exons are still present

65
Q

Why does southern blot give different fragement sizes for hemophilia?

A

inversion changes distances b/w restriction sites, so sizes in fragemtns are different

66
Q

If blots are fainter on southern blot, what does that say?

A

less DNA

complete deletion mutation - they only have one copy of gene compared to other individuals

67
Q

Less target DNA results in a:

A

weaker signal (bands will be lighter)

68
Q

The lane at the bottom of southern blot is used as a

A

control

ensures they loaded equal amount for each pt, shows that if there are differences on DNA they are real differences

69
Q

We use RFLPs to track muation ins:

A

family

70
Q

What is used to track muations in a family?

A

RFLPs

71
Q

What is the principle idea for RFLP analysis?

A

linkage - the part of mutation will be inherited together

72
Q

The probe will hybridize to ___ alleles

A

BOTH

with and without mutation

73
Q

The RFLP is present in _____ at large

A

population

74
Q

RFLPs are always what?

A

family specific

MCB1 Block 4 (17 decks)

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