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Quiz von gina_evans0312, aktualisiert more than 1 year ago
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Erstellt von gina_evans0312
vor mehr als 10 Jahre
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Frage 1
Frage
Hereditary Haemachromatosis involves excessive iron absorption
Antworten
- True
- False
Frage 2
Frage
Why is HH dangerous?
Antworten
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Iron builds up in tissues
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Iron damages blood vessels
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Iron is poisonous
Frage 3
Frage
How is HH inherited?
Antworten
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Autosomal dominant
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X linked recessive
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Autosomal recessive
Frage 4
Frage
HH is an example of a founder mutation
Antworten
- True
- False
Frage 5
Frage
pC282Y and pH36D can cause HH in what forms?
Antworten
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As heterozygotes
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As homozygotes
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As compound heterozygotes
Frage 6
Frage
What is the test for HH?
Antworten
-
Ferratin levels in the blood
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Iron absorption by gut
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Free blood iron level
Frage 7
Frage
Which exon contains the p.C282Y mutation?
Antworten
-
3
-
4
-
5
Frage 8
Frage
How can we amplify the area around the suspected mutation?
Antworten
-
PCR
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Using specific primers
Frage 9
Frage
Fluorescent based DNA sequencing is used to ascertain the exact sequence
Antworten
- True
- False
Frage 10
Frage
Dideoxysequencing relies on what?
Antworten
-
Chain terminating nucleotides
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Chain bending nucleotides
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Chain mutating nucleotides
Frage 11
Frage
Fluorophores of different wavelengths are used to differentiate the four chain terminating bases
Antworten
- True
- False
Frage 12
Frage
After the amplification, how do we separate the product?
Antworten
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By size on a gel
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By size on a not gel
Frage 13
Frage
A laser scanner reads the different flurophores as the produces come in, from which it can form a sequence
Antworten
- True
- False
Frage 14
Frage
How are chromosomal level variations tested?
Antworten
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Karyotyping
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Using SNP's
Frage 15
Frage
The 'Standard FISH' is the 'hybridisation of multiple chromosome specific probes
Antworten
- True
- False
Frage 16
Frage
FISHing can be used to detect DiGeorge syndrome
Antworten
- True
- False
Frage 17
Frage
What do the probes in FISHing usually look for
Antworten
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Smallest area of overlap between possible deletions
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Largest area of overlap between possible deletions
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The ends of telomeres
Frage 18
Frage
Why is the end of the telomere looked for in Dual Probe FISHing?
Antworten
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To ensure there's a correct no of each chromosome
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So if there's no binding to smallest area of overlap, it's not because the chromosome itself is missing
-
To ensure the chromosome is the correct shape
Frage 19
Frage
FISHing can be used for testing chromosome rearrangement
Antworten
- True
- False
Frage 20
Frage
In a BCR-ABL related cancer, (assuming you were using a Red probe for the BCR gene and a green probe for the Abl gene) what would you see if you performed a FISH test?
Antworten
-
Two red, two green
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One red, one green, two yellow
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Four red
Frage 21
Frage
In the case of novel clinical pathologies, you scan the entire genome for CNV's
Antworten
- True
- False
Frage 22
Frage
How does Array Comparitive Genomic Hybridisation work?
Antworten
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Create an array (slide/multiple tubes of liquid samples) of probes
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Probes designed to overlap all along the genome (as many base pairs apart as necessary depending on specificity)
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These probes should hybrdise to tested DNA
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The level of hybridisation of each probe can be used to determine deviations from norm
Frage 23
Frage
Assuming the highest band shows the wild type signal, what type of mutation has occurred here?
Image:
Deletion (image/png)
Antworten
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Deletion
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Insertion
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Duplication
Frage 24
Frage
Testing for CNV's will occur before testing for mutations
Antworten
- True
- False
Frage 25
Frage
When exon sequencing, first amplify your exons
Antworten
- True
- False
Frage 26
Frage
What is the problem with Next generation sequencing?
Antworten
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It generates masses of information
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It generates sequences at random
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It's difficult to tell which mutations are pathogenic
Frage 27
Frage
Assuming a person has a wide number of mutations (most people do) what do you discount?
Antworten
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SNP's common in the population
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Synonymous variants
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Heterozygous variants
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