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Pathology > Molecular Path > Flashcards

Molecular Path Flashcards

1
Q

What are the four applications of molecular techniques?

A
  1. Detection of inherited/acquired mutations
  2. Accurate diagnosis/classify tumor
  3. Detect infx agents
  4. Tissue typing, paternity testing
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2
Q

What are the advantages to molecular analysis over cytogenetic analysis?

A

Sensitive (genes are stable relative to proteins)

Not dependent on analysis of gene product

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3
Q

What are genome mutations?

A

The loss or gain of an entire chromosome

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4
Q

What are chromosome mutations?

A

Rearrangement of genetic material

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5
Q

What are gene mutations?

A

the complete deletion of a gene, or as little as a single point mutation

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6
Q

Where can gene mutations occur?

A

Introns, extrons

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7
Q

Triplet CAG repeat in an extron = ?

A

Huntingtons disease

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8
Q

CTG repeat in an UTR = ?

A

Myotonic dystrophy

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9
Q

What are the effects of mutations in promoters/enhancer regions of a DNA segment?

A

Increase or decrease in expression

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10
Q

Which are expressed, and which are cut out: exons and introns?

A 
Exons = expressed
Introns = cut out
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11
Q

What is the molecular basis of beta-thalassemia?

A

problem with the polyadenylation signal or in the promoter regions, causing a decreased expression

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12
Q

What is the direct detection of mutations?

A

DNA comparison with a known DNA sequence

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13
Q

What is an indirect detection?

A

Detection through linkage of the disease gene with a marker that is nearby

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14
Q

What are the three steps of direct detections of mutations?

A
  1. PCR amplification via primer
  2. Digest PCR products with appropriate endonuclease
  3. Separate digestion product with electrophoresis
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15
Q

What is allele-specific extension strategy?

A

For a known mutation, a primer is made before the mutated point. Then, marked nucleotides are added. Since point mutation is known, then the markers will indicate whether it is a wild, mutated, or mixed gene.

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16
Q

What is allele-specific extension strategy?

A

For a known mutation, a primer is made up until the mutated point. Then, marked nucleotides are added. Since point mutation is known, then the markers will indicate whether it is a wild, mutated, or mixed gene.

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17
Q

How are linkage analysis analyzed?

A

Endonuclease used to cut marker gene

Southern blot will display different cut genes of the specific gene in question (d/t the use of a probe)

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18
Q

What is the difference between linkage analysis and detection of genetic mutations through endonucleases?

A

A specific probe is used to only look at the mutated linker gene in question, rather than run all of the DNA in an electrophoresis

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19
Q

What is the use of genetic techniques for HIV and Hep C?

A

Monitor Viral load via [RNA]

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20
Q

What is the difference between linkage analysis and detection of genetic mutations through endonucleases?

A

A specific probe is used to only look at the mutated linker gene in question, rather than run all of the DNA in an eletrophoresis

21
Q

What is indirect detection of a gene?

A

Through linkage of the disease gene with a marker that is nearby

22
Q

What are the advantages of indirect detection/linkage analysis?

A

Does not require gene sequence to be known

Does require that polymorphism is sufficiently close to the mutation

23
Q

How are linkage analysis analyzed?

A

Endonuclease used to cut marker gene

Southern blot will display different cut genes

24
Q

What is spectral karyotyping (SKY)? What is this technique used for?

A

Painting all chromosomes a specific color, looking for translocations

25
Q

What is the use of genetic techniques for HIV?

A

Monitor Viral load

26
Q

What is PCR used for?

A

Detect type of infectious agent.

27
Q

What are the characteristics of a gene that can be used to identify an individual?

A

Must by highly polymorphic (like MHC)

28
Q

What is the purpose of a ladder in DNA analysis?

A

the ladder is a control DNA segment for DNA size

29
Q

Can you totally exclude/include suspects with DNA forensic analysis? Why or why not?

A

Can totally exclude

Cannot totally include b/c MHC not completely unique

30
Q

FISH =?

A

Staining DNA and looking for abnormal numbers

31
Q

What is spectral karyotyping?

A

Painting all chromosomes a specific color, looking for translocations

32
Q

What is the array-based comparative genomic hybridization?

A

Color labeled normal and abnormal genes hybridized to sample. ***

33
Q

What is aneuploidy?

A

Lack of a chromosome (like Down)

34
Q

What causes Beta-thalassemia?

A

Point mutation in the promoter/enhancer changes gene expression

Changes in the 5’ cap

35
Q

Is PCR direct or indirect technique of detecting genetic mutations?

A

Direct

36
Q

What are the two major advantages of molecular analysis over karyotyping?

A
  1. Sensitivity

2. Not gene product dependent–any cell works

37
Q

CF is caused by what genetic mutation?

A

Frameshift mutation

38
Q

What is RFLP (restriction fragment length polymorphism)?

A

Mutation causes addition or subtraction of an endonuclease site. Therefore, different gene fragment lengths are produced

39
Q

What is the principle behind RFLP (restriction fragment length polymorphism)?

A

Mutation causes addition or subtraction of an endonuclease site. Therefore, different gene fragment lengths are produced

40
Q

What is the method of detection of RFLP?

A

Southern blot of amplified sample gene, compared to a normal gene (must know normal)

41
Q

What is the difference between direct and indirect detection of RFLP?

A

Direct = it is the loss of the endonuclease site that causes the disease

Indirect = only correlated

42
Q

What are the advantages of indirect detection RFLP?

A

Advantage = do not need to know specific gene, just closely associated one

43
Q

CGG repeat on an X chromosome= ?

A

Fragile X sydrome

44
Q

GAA repeat in an intron = ?

A

Friedreich ataxia

45
Q

A mutation in the 3’ polyadenylation signal may lead to what?

A

Unstable mRNA = not expressed protein, or decreased expression

46
Q

How does forensic medicine work?

A

Run MHC genes of suspected persons with evidence, and compare

47
Q

Where do epigenetic changes usually occur?

A

at promoters at the CpG islands

48
Q

Histone deacetylation is associated with an increase or a decrease in gene expression?

A

Decrease

49
Q

What is array-based comparative genomic hybridization?

A

Tested DNA and reference DNA are labeled with two fluorescent dyes and hybridized to slide spotted with DNA probes. This can detect amplification or deletion of a gene, depending on the color at each probe.

Pathology (32 decks)

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