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Transition Block - Genetics

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Honours Degree Medicine (Transition Block) Quiz on Transition Block - Genetics, created by Matthew Coulson on 13/04/2019.
Matthew Coulson
Quiz by Matthew Coulson, updated more than 1 year ago
Matthew Coulson
Created by Matthew Coulson about 5 years ago
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Resource summary

Question 1

Question
Array CGH:
Answer
  • Only detects Balanced Chromosome Translocations
  • Only detects Unbalanced Chromosome Translocations
  • Detects both Balanced and Unbalanced Chromosome Translocations

Question 2

Question
Neurofibromatosis has an [blank_start]autosomal dominant[blank_end] inheritance pattern.
Answer
  • Autosomal dominant
  • Autosomal recessive
  • X-linked dominant
  • X-linked recessive
  • Mitochondrial

Question 3

Question
[blank_start]Missense mutation[blank_end]: point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. [blank_start]Nonsense mutation[blank_end]: point mutation in a sequence of DNA that results in a premature stop codon.
Answer
  • Nonsense mutation
  • Missense mutation

Question 4

Question
A [blank_start]synonymous[blank_end] substitution is the evolutionary substitution of one base for another in an exon of a gene coding for a protein, such that the produced amino acid sequence is not modified.
Answer
  • synonymous
  • quiet
  • pointless
  • convertable
  • identical
  • correspondent

Question 5

Question
Which of the following is the most commonly mutated gene causing sporadic onset Alzheimer's Disease?
Answer
  • APOE ε4
  • Presenilin 1
  • Presenilin 2
  • PARK

Question 6

Question
What is the first step in the central dogma? [blank_start]Transcription[blank_end]
Answer
  • Transcription

Question 7

Question
Next generation sequencing of genes has an advantage over sanger (conventional) sequencing because ...
Answer
  • It allows sequencing of a much larger number of genes
  • It is able to pick up mutations while discarding polymorphisms
  • It samples a smaller number of genes, however is up to 4 times more accurate

Question 8

Question
Array comparative genomic hybridisation (aCGH) is preferable to karyotyping as a first test for chromosomal analysis because it has a higher resolution
Answer
  • True
  • False

Question 9

Question
A 64 year old man has hypertrophic cardiomyopathy due to an IIe345X (stop) mutation in the MYBPC3 gene. His 32 y/o son is healthy and has a normal heart scan but is shown to carry the same mutation. What is the most likely genetic explanation for the normal scan in his son?
Answer
  • The mutation has variable penetrance
  • The mutation has absolute penetrance
  • The mutation has relative penetrance

Question 10

Question
A 10 year old girl has severe learning difficulties. A mutation is identified in a gene that causes a syndrome. What would be the strongest evidence that this variant is causing the learning difficulties?
Answer
  • The mutation is present in the child but not the parents
  • The mutation is present in both the child and the parents
  • The mutation is present on both X chromosomes
  • Mother's sister has a daughter with severe learning difficulties
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