04 - DLA Flashcards

1
Q

What are deletions that are too small to be seen by G banding?

A

Microdeletions

- G banding has low resolution

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2
Q

What is the Philadelphia chromosome?

A

9;22 translocation, a chunk of chromosome 22 got stuck onto chromosome 9
- Chronic myeloid leukamia

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3
Q

Two types of FISH analysis?

A

Locus specific and SKY

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4
Q

Locus specific?

A

Must have an idea of what you are looking for

- Hybridizes to a specific locus on a chromosome

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5
Q

SKY

A

Chromosome painting

  • Uses whole chromosome specific probes to paint each chromosome
  • Looks at the entire genome
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6
Q

DiGeorge Syndrome (22q11.2 Deletion Syndrome)

A

Curious DiGeorge - Immunodeficiencies (CANE)

  • Micro-deletion on the q arm on chromosome 22 (TuTu)
  • FISH, technique to diagnose
  • failure to develop the 3rd and 4th pharyngeal pouches
  • Thymic aplasia – 3rd pharyngeal pouch develops into the thymus (Thyme)
  • parathyroid dysplasia/decreased PTH – 3rd and 4th pharynegeal pouch develop into the parathyroid gland
  • Decreased T-cells (mature in the thymus) and calcium (PTH signals the need for calcium)
  • abnormal facies
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7
Q

Velocardiofacial syndrome

A

22q11.2 deletion syndrome
- Cleft palate
- abnormal facies
DG too - truncus arteriosus (elephant trunk)
DG too - tetralogy of Fallot (tetric floor)

-

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8
Q

Chromosome painting

A

Better for major chromosome rearrangements and not small deletions

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9
Q

Microarray CGH

A

Can see microdeletions at a very high resolution

- can map the location of genomic duplications and deletions between DNA samples (compares)

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10
Q

Is the philadelphia chromosome found with Microarray CGH?

A

No it is not found because the 9;22 has no loss or gain but it is found with G-band, Locus specific FISH and SKY (painting chromosome)

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11
Q

What is the first tier test?

A

Microarray CGH

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12
Q

SNP array

A

You can very quickly make a genomic map (easily see if someone is hetero or homo)

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13
Q

What is cDNA?

A

mRNA is very unstable so to get around that you use a reverse transcriptase to turn the mRNA back into cDNA

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14
Q

What is used to detect triple repeat expansion?

A

PCR

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15
Q

Base pairs for G band, FISH, Micro Array CGH, ASO

A

G band - >5Mb
FISH - 100-500Kb
Microarray - 30 Kb
ASO - 15b

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16
Q

What test would you use to diagnosis someone with huntingtons disease?

A

Triple repeat expansion disorder of CAG

- use PCR

17
Q

What does a FAST FISH test rely on?

A

Interphase stage cells

18
Q

What is SNP Chip?

A

Test that is trying to discover polymorphisms in a population

19
Q

What is cDNA Microarray measuring?

A

Gene expression

20
Q

What does NGS rely on?

A

Massively parallel production of sequencing

- Doing multiple runs of the same sequence. Getting a ton of bases of a sequence

21
Q

What is Sanger sequence?

A

NGS - single primer and a single run of sequence. You only get around 500 bases of sequence