7P: Molecular genetics I Flashcards

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1
Q

Genetic diagnosis of Fragile-X syndrome

A
  • Cytogenetic examination: Cell culture on folate poor substrate
  • PCR based examination
  • Southern-blot based examination
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2
Q

Disadvantages of cytogenetic diagnosis

A
  • Lot of work
  • Expensive
  • Takes long
  • High rate of false positive and false negative results
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3
Q

Classification of molecular genetic methods (basic principles)

A
  • Cut and paste
  • Hybridization
  • Amplification
  • Visualization
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4
Q

Restriction endonucleases

A

Enzymes that cut DNA at specific (palindromic) recognition nucleotide sequences

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5
Q

Hybridization

A

Making a complimentary strand to a ssDNA or an RNA strand

- Eg. FISH, PCR, blotting techniques

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6
Q

Applications of Southern blot

A
  • Detection of fragile X syndrome

- Identification of methylation sites

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7
Q

Possible error of PCR

A

If the DNA is not clean enough, contamination will be amplified as well

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8
Q

Needed for PCR

A

Primer, nucleotides, Taq polymerase, template, DNA

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9
Q

Advantage of capillary electrophoresis

A

In the separation of DNA sequences (e.g. PCR products) of very small size (1bp) difference

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10
Q

Fragile X syndrome gene

A

FRAXA gene

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11
Q

CGG-repeats in FRAXA gene causing disease

A

55-230 -> Premutation (healthy)

230-1000 -> Full mutation

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12
Q

PCR-RFLP method

A

1) The DNA region is amplified with specific primers in PCR
2) Digestion of DNA with restriction enzymes (for PCR-RFLP)
3) Gel electrophoresis
4) Staining with DNA-binding dyes, e.g. Ethidium bromide
5) Evaluation in UV light

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13
Q

Clinical significance of VNTR

A
  • Triplet repeat disease (expansion of triplet in mutant allele)
  • Wild type allele - few triplet repeat, but in mutant the number of repeats are multiplied
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14
Q

Multiplex PCR

A

Allows simultaneous amplification of multiple target regions within single reaction using different primer pairs

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15
Q

Largest gene of human genome

A

Dystrophin gene

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16
Q

Most common mutations in dystrophin gene

A

Deletions

17
Q

Why is PCR used to detect deletions instead of Southern blot?

A

Its efficient and economical