Test
Genetic Testing
Preguntas del test (27)
1Hereditary Haemachromatosis involves excessive iron absorption
- AVerdadero
- BFalso
2Why is HH dangerous?
- AIron builds up in tissues
- BIron damages blood vessels
- CIron is poisonous
3How is HH inherited?
- AAutosomal dominant
- BX linked recessive
- CAutosomal recessive
4HH is an example of a founder mutation
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5pC282Y and pH36D can cause HH in what forms?
- AAs heterozygotes
- BAs homozygotes
- CAs compound heterozygotes
6What is the test for HH?
- AFerratin levels in the blood
- BIron absorption by gut
- CFree blood iron level
7Which exon contains the p.C282Y mutation?
- A3
- B4
- C5
8How can we amplify the area around the suspected mutation?
- APCR
- BUsing specific primers
9Fluorescent based DNA sequencing is used to ascertain the exact sequence
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10Dideoxysequencing relies on what?
- AChain terminating nucleotides
- BChain bending nucleotides
- CChain mutating nucleotides
11Fluorophores of different wavelengths are used to differentiate the four chain terminating bases
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12After the amplification, how do we separate the product?
- ABy size on a gel
- BBy size on a not gel
13A laser scanner reads the different flurophores as the produces come in, from which it can form a sequence
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14How are chromosomal level variations tested?
- AKaryotyping
- BUsing SNP's
15The 'Standard FISH' is the 'hybridisation of multiple chromosome specific probes
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16FISHing can be used to detect DiGeorge syndrome
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17What do the probes in FISHing usually look for
- ASmallest area of overlap between possible deletions
- BLargest area of overlap between possible deletions
- CThe ends of telomeres
18Why is the end of the telomere looked for in Dual Probe FISHing?
- ATo ensure there's a correct no of each chromosome
- BSo if there's no binding to smallest area of overlap, it's not because the chromosome itself is missing
- CTo ensure the chromosome is the correct shape
19FISHing can be used for testing chromosome rearrangement
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20In 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?
- ATwo red, two green
- BOne red, one green, two yellow
- CFour red
21In the case of novel clinical pathologies, you scan the entire genome for CNV's
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22How does Array Comparitive Genomic Hybridisation work?
- ACreate an array (slide/multiple tubes of liquid samples) of probes
- BProbes designed to overlap all along the genome (as many base pairs apart as necessary depending on specificity)
- CThese probes should hybrdise to tested DNA
- DThe level of hybridisation of each probe can be used to determine deviations from norm
23Assuming the highest band shows the wild type signal, what type of mutation has occurred here?
- ADeletion
- BInsertion
- CDuplication
24Testing for CNV's will occur before testing for mutations
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25When exon sequencing, first amplify your exons
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26What is the problem with Next generation sequencing?
- AIt generates masses of information
- BIt generates sequences at random
- CIt's difficult to tell which mutations are pathogenic
27Assuming a person has a wide number of mutations (most people do) what do you discount?
- ASNP's common in the population
- BSynonymous variants
- CHeterozygous variants
Información
- Descripción
- Year 2 Test sobre Genetic Testing, creado por gina_evans0312 el 27/12/2013.
- Autor
- gina_evans0312
- Idioma
- English
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- 540
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