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Genetic Testing

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Year 2 Quiz on Genetic Testing, created by gina_evans0312 on 27/12/2013.
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Quiz by gina_evans0312, updated more than 1 year ago
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Created by gina_evans0312 over 10 years ago
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Resource summary

Question 1

Question
Hereditary Haemachromatosis involves excessive iron absorption
Answer
  • True
  • False

Question 2

Question
Why is HH dangerous?
Answer
  • Iron builds up in tissues
  • Iron damages blood vessels
  • Iron is poisonous

Question 3

Question
How is HH inherited?
Answer
  • Autosomal dominant
  • X linked recessive
  • Autosomal recessive

Question 4

Question
HH is an example of a founder mutation
Answer
  • True
  • False

Question 5

Question
pC282Y and pH36D can cause HH in what forms?
Answer
  • As heterozygotes
  • As homozygotes
  • As compound heterozygotes

Question 6

Question
What is the test for HH?
Answer
  • Ferratin levels in the blood
  • Iron absorption by gut
  • Free blood iron level

Question 7

Question
Which exon contains the p.C282Y mutation?
Answer
  • 3
  • 4
  • 5

Question 8

Question
How can we amplify the area around the suspected mutation?
Answer
  • PCR
  • Using specific primers

Question 9

Question
Fluorescent based DNA sequencing is used to ascertain the exact sequence
Answer
  • True
  • False

Question 10

Question
Dideoxysequencing relies on what?
Answer
  • Chain terminating nucleotides
  • Chain bending nucleotides
  • Chain mutating nucleotides

Question 11

Question
Fluorophores of different wavelengths are used to differentiate the four chain terminating bases
Answer
  • True
  • False

Question 12

Question
After the amplification, how do we separate the product?
Answer
  • By size on a gel
  • By size on a not gel

Question 13

Question
A laser scanner reads the different flurophores as the produces come in, from which it can form a sequence
Answer
  • True
  • False

Question 14

Question
How are chromosomal level variations tested?
Answer
  • Karyotyping
  • Using SNP's

Question 15

Question
The 'Standard FISH' is the 'hybridisation of multiple chromosome specific probes
Answer
  • True
  • False

Question 16

Question
FISHing can be used to detect DiGeorge syndrome
Answer
  • True
  • False

Question 17

Question
What do the probes in FISHing usually look for
Answer
  • Smallest area of overlap between possible deletions
  • Largest area of overlap between possible deletions
  • The ends of telomeres

Question 18

Question
Why is the end of the telomere looked for in Dual Probe FISHing?
Answer
  • 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

Question 19

Question
FISHing can be used for testing chromosome rearrangement
Answer
  • True
  • False

Question 20

Question
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?
Answer
  • Two red, two green
  • One red, one green, two yellow
  • Four red

Question 21

Question
In the case of novel clinical pathologies, you scan the entire genome for CNV's
Answer
  • True
  • False

Question 22

Question
How does Array Comparitive Genomic Hybridisation work?
Answer
  • 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

Question 23

Question
Assuming the highest band shows the wild type signal, what type of mutation has occurred here?
Image:
Deletion (image/png)
Answer
  • Deletion
  • Insertion
  • Duplication

Question 24

Question
Testing for CNV's will occur before testing for mutations
Answer
  • True
  • False

Question 25

Question
When exon sequencing, first amplify your exons
Answer
  • True
  • False

Question 26

Question
What is the problem with Next generation sequencing?
Answer
  • It generates masses of information
  • It generates sequences at random
  • It's difficult to tell which mutations are pathogenic

Question 27

Question
Assuming a person has a wide number of mutations (most people do) what do you discount?
Answer
  • SNP's common in the population
  • Synonymous variants
  • Heterozygous variants
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