Matthew Coulson
Quiz von , erstellt am more than 1 year ago

Honours Degree Medicine (Transition Block) Quiz am Transition Block - Genetics, erstellt von Matthew Coulson am 13/04/2019.

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Matthew Coulson
Erstellt von Matthew Coulson vor mehr als 5 Jahre
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Transition Block - Genetics

Frage 1 von 10

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Array CGH:

Wähle eine der folgenden:

  • Only detects Balanced Chromosome Translocations

  • Only detects Unbalanced Chromosome Translocations

  • Detects both Balanced and Unbalanced Chromosome Translocations

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Frage 2 von 10

1

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Neurofibromatosis has an ( Autosomal dominant, Autosomal recessive, X-linked dominant, X-linked recessive, Mitochondrial ) inheritance pattern.

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Frage 3 von 10

1

: point mutation in which a single nucleotide change results in a codon that codes for a different amino acid.
: point mutation in a sequence of DNA that results in a premature stop codon.

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    Nonsense mutation
    Missense mutation

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Frage 4 von 10

1

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A ( synonymous, quiet, pointless, convertable, identical, correspondent ) 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.

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Frage 5 von 10

1

Which of the following is the most commonly mutated gene causing sporadic onset Alzheimer's Disease?

Wähle eine der folgenden:

  • APOE ε4

  • Presenilin 1

  • Presenilin 2

  • PARK

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Frage 6 von 10

1

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What is the first step in the central dogma?

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Frage 7 von 10

1

Next generation sequencing of genes has an advantage over sanger (conventional) sequencing because ...

Wähle eine der folgenden:

  • 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

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Frage 8 von 10

1

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

Wähle eins der folgenden:

  • WAHR
  • FALSCH

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Frage 9 von 10

1

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?

Wähle eine der folgenden:

  • The mutation has variable penetrance

  • The mutation has absolute penetrance

  • The mutation has relative penetrance

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Frage 10 von 10

1

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?

Wähle eine der folgenden:

  • 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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