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Quiz

Transition Block - Genetics

Matthew Coulson 10 perguntas

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Perguntas do quiz (10)

  1. 1Array CGH:
    1. AOnly detects Balanced Chromosome Translocations
    2. BOnly detects Unbalanced Chromosome Translocations
    3. CDetects both Balanced and Unbalanced Chromosome Translocations
  2. 2Neurofibromatosis has an [blank_start]autosomal dominant[blank_end] inheritance pattern.
    1. AAutosomal dominant
    2. BAutosomal recessive
    3. CX-linked dominant
    4. DX-linked recessive
    5. EMitochondrial
  3. 3[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.
    1. ANonsense mutation
    2. BMissense mutation
  4. 4A [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.
    1. Asynonymous
    2. Bquiet
    3. Cpointless
    4. Dconvertable
    5. Eidentical
    6. Fcorrespondent
  5. 5Which of the following is the most commonly mutated gene causing sporadic onset Alzheimer's Disease?
    1. AAPOE ε4
    2. BPresenilin 1
    3. CPresenilin 2
    4. DPARK
  6. 6What is the first step in the central dogma?
    [blank_start]Transcription[blank_end]
    1. ATranscription
  7. 7Next generation sequencing of genes has an advantage over sanger (conventional) sequencing because ...
    1. AIt allows sequencing of a much larger number of genes
    2. BIt is able to pick up mutations while discarding polymorphisms
    3. CIt samples a smaller number of genes, however is up to 4 times more accurate
  8. 8Array comparative genomic hybridisation (aCGH) is preferable to karyotyping as a first test for chromosomal analysis because it has a higher resolution
    1. AVerdadeiro
    2. BFalso
  9. 9A 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?
    1. AThe mutation has variable penetrance
    2. BThe mutation has absolute penetrance
    3. CThe mutation has relative penetrance
  10. 10A 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?
    1. AThe mutation is present in the child but not the parents
    2. BThe mutation is present in both the child and the parents
    3. CThe mutation is present on both X chromosomes
    4. DMother's sister has a daughter with severe learning difficulties

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Descrição
Honours Degree Medicine (Transition Block) Quiz sobre Transition Block - Genetics, criado por Matthew Coulson em 13-04-2019.
Idioma
English
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