455650
Descrição
Quiz por gina_evans0312, atualizado more than 1 year ago
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Criado por gina_evans0312
mais de 10 anos atrás
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Questão 1
Questão
Hereditary Haemachromatosis involves excessive iron absorption
Responda
- True
- False
Questão 2
Questão
Why is HH dangerous?
Responda
-
Iron builds up in tissues
-
Iron damages blood vessels
-
Iron is poisonous
Questão 3
Questão
How is HH inherited?
Responda
-
Autosomal dominant
-
X linked recessive
-
Autosomal recessive
Questão 4
Questão
HH is an example of a founder mutation
Responda
- True
- False
Questão 5
Questão
pC282Y and pH36D can cause HH in what forms?
Responda
-
As heterozygotes
-
As homozygotes
-
As compound heterozygotes
Questão 6
Questão
What is the test for HH?
Responda
-
Ferratin levels in the blood
-
Iron absorption by gut
-
Free blood iron level
Questão 7
Questão
Which exon contains the p.C282Y mutation?
Responda
-
3
-
4
-
5
Questão 8
Questão
How can we amplify the area around the suspected mutation?
Responda
-
PCR
-
Using specific primers
Questão 9
Questão
Fluorescent based DNA sequencing is used to ascertain the exact sequence
Responda
- True
- False
Questão 10
Questão
Dideoxysequencing relies on what?
Responda
-
Chain terminating nucleotides
-
Chain bending nucleotides
-
Chain mutating nucleotides
Questão 11
Questão
Fluorophores of different wavelengths are used to differentiate the four chain terminating bases
Responda
- True
- False
Questão 12
Questão
After the amplification, how do we separate the product?
Responda
-
By size on a gel
-
By size on a not gel
Questão 13
Questão
A laser scanner reads the different flurophores as the produces come in, from which it can form a sequence
Responda
- True
- False
Questão 14
Questão
How are chromosomal level variations tested?
Responda
-
Karyotyping
-
Using SNP's
Questão 15
Questão
The 'Standard FISH' is the 'hybridisation of multiple chromosome specific probes
Responda
- True
- False
Questão 16
Questão
FISHing can be used to detect DiGeorge syndrome
Responda
- True
- False
Questão 17
Questão
What do the probes in FISHing usually look for
Responda
-
Smallest area of overlap between possible deletions
-
Largest area of overlap between possible deletions
-
The ends of telomeres
Questão 18
Questão
Why is the end of the telomere looked for in Dual Probe FISHing?
Responda
-
To ensure there's a correct no of each chromosome
-
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
Questão 19
Questão
FISHing can be used for testing chromosome rearrangement
Responda
- True
- False
Questão 20
Questão
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?
Responda
-
Two red, two green
-
One red, one green, two yellow
-
Four red
Questão 21
Questão
In the case of novel clinical pathologies, you scan the entire genome for CNV's
Responda
- True
- False
Questão 22
Questão
How does Array Comparitive Genomic Hybridisation work?
Responda
-
Create an array (slide/multiple tubes of liquid samples) of probes
-
Probes designed to overlap all along the genome (as many base pairs apart as necessary depending on specificity)
-
These probes should hybrdise to tested DNA
-
The level of hybridisation of each probe can be used to determine deviations from norm
Questão 23
Questão
Assuming the highest band shows the wild type signal, what type of mutation has occurred here?
Image:
Deletion (image/png)
Responda
-
Deletion
-
Insertion
-
Duplication
Questão 24
Questão
Testing for CNV's will occur before testing for mutations
Responda
- True
- False
Questão 25
Questão
When exon sequencing, first amplify your exons
Responda
- True
- False
Questão 26
Questão
What is the problem with Next generation sequencing?
Responda
-
It generates masses of information
-
It generates sequences at random
-
It's difficult to tell which mutations are pathogenic
Questão 27
Questão
Assuming a person has a wide number of mutations (most people do) what do you discount?
Responda
-
SNP's common in the population
-
Synonymous variants
-
Heterozygous variants
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