455650
Descripción
Test por gina_evans0312, actualizado hace más de 1 año
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Creado por gina_evans0312
hace casi 11 años
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Pregunta 1
Pregunta
Hereditary Haemachromatosis involves excessive iron absorption
Respuesta
- True
- False
Pregunta 2
Pregunta
Why is HH dangerous?
Respuesta
-
Iron builds up in tissues
-
Iron damages blood vessels
-
Iron is poisonous
Pregunta 3
Pregunta
How is HH inherited?
Respuesta
-
Autosomal dominant
-
X linked recessive
-
Autosomal recessive
Pregunta 4
Pregunta
HH is an example of a founder mutation
Respuesta
- True
- False
Pregunta 5
Pregunta
pC282Y and pH36D can cause HH in what forms?
Respuesta
-
As heterozygotes
-
As homozygotes
-
As compound heterozygotes
Pregunta 6
Pregunta
What is the test for HH?
Respuesta
-
Ferratin levels in the blood
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Iron absorption by gut
-
Free blood iron level
Pregunta 7
Pregunta
Which exon contains the p.C282Y mutation?
Respuesta
-
3
-
4
-
5
Pregunta 8
Pregunta
How can we amplify the area around the suspected mutation?
Respuesta
-
PCR
-
Using specific primers
Pregunta 9
Pregunta
Fluorescent based DNA sequencing is used to ascertain the exact sequence
Respuesta
- True
- False
Pregunta 10
Pregunta
Dideoxysequencing relies on what?
Respuesta
-
Chain terminating nucleotides
-
Chain bending nucleotides
-
Chain mutating nucleotides
Pregunta 11
Pregunta
Fluorophores of different wavelengths are used to differentiate the four chain terminating bases
Respuesta
- True
- False
Pregunta 12
Pregunta
After the amplification, how do we separate the product?
Respuesta
-
By size on a gel
-
By size on a not gel
Pregunta 13
Pregunta
A laser scanner reads the different flurophores as the produces come in, from which it can form a sequence
Respuesta
- True
- False
Pregunta 14
Pregunta
How are chromosomal level variations tested?
Respuesta
-
Karyotyping
-
Using SNP's
Pregunta 15
Pregunta
The 'Standard FISH' is the 'hybridisation of multiple chromosome specific probes
Respuesta
- True
- False
Pregunta 16
Pregunta
FISHing can be used to detect DiGeorge syndrome
Respuesta
- True
- False
Pregunta 17
Pregunta
What do the probes in FISHing usually look for
Respuesta
-
Smallest area of overlap between possible deletions
-
Largest area of overlap between possible deletions
-
The ends of telomeres
Pregunta 18
Pregunta
Why is the end of the telomere looked for in Dual Probe FISHing?
Respuesta
-
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
Pregunta 19
Pregunta
FISHing can be used for testing chromosome rearrangement
Respuesta
- True
- False
Pregunta 20
Pregunta
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?
Respuesta
-
Two red, two green
-
One red, one green, two yellow
-
Four red
Pregunta 21
Pregunta
In the case of novel clinical pathologies, you scan the entire genome for CNV's
Respuesta
- True
- False
Pregunta 22
Pregunta
How does Array Comparitive Genomic Hybridisation work?
Respuesta
-
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
Pregunta 23
Pregunta
Assuming the highest band shows the wild type signal, what type of mutation has occurred here?
Image:
Deletion (image/png)
Respuesta
-
Deletion
-
Insertion
-
Duplication
Pregunta 24
Pregunta
Testing for CNV's will occur before testing for mutations
Respuesta
- True
- False
Pregunta 25
Pregunta
When exon sequencing, first amplify your exons
Respuesta
- True
- False
Pregunta 26
Pregunta
What is the problem with Next generation sequencing?
Respuesta
-
It generates masses of information
-
It generates sequences at random
-
It's difficult to tell which mutations are pathogenic
Pregunta 27
Pregunta
Assuming a person has a wide number of mutations (most people do) what do you discount?
Respuesta
-
SNP's common in the population
-
Synonymous variants
-
Heterozygous variants
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