Microarrays Flashcards

1
Q

Types of microarrays

A

Spotted dna microarrays
Oligonucloetide arrays
- gene chips (affymetrix)
- ink jet microarrays (agilent)

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2
Q

PWS mutation

A

Deletion on long atm chr15

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3
Q

What does wBS stand for, what is the causative mutation

A

Williams beuren syndrome
Deletion of 27 genes from ch7

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4
Q

Causative mutation in Charcot Marie aTppth Disease Type 1

A

Duplication on chr17

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5
Q

4 methods of detecting CNVs

A

Karyotyping
Fish
Microarrays (oligo and bac)
Microarrays -> array cgh

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6
Q

What is array cgh the gold standard for

A

Intellectual disability/developmental delay

Autism spectrum disorder

Multiple congenital anomalies

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7
Q

Gene expression array method

A
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8
Q

Example of a gene expression array

A

MammaPrint dx 70-gene

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9
Q

What does cgh stand for

A

Comparative genomic hybridisation

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10
Q

Method of array cgh

A
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11
Q

Method of array cgh

A
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