Matthew Coulson
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Honours Degree (Transition Block) Medicine Test sobre Transition Block - Genetics, creado por Matthew Coulson el 13/04/2019.

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Matthew Coulson
Creado por Matthew Coulson hace más de 5 años
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Transition Block - Genetics

Pregunta 1 de 10

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Array CGH:

Selecciona una de las siguientes respuestas posibles:

  • Only detects Balanced Chromosome Translocations

  • Only detects Unbalanced Chromosome Translocations

  • Detects both Balanced and Unbalanced Chromosome Translocations

Explicación

Pregunta 2 de 10

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Selecciona la opción correcta del menú desplegable para completar el texto.

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

Explicación

Pregunta 3 de 10

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: 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.

Arrastra y suelta para completar el texto.

    Nonsense mutation
    Missense mutation

Explicación

Pregunta 4 de 10

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Selecciona la opción correcta del menú desplegable para completar el texto.

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.

Explicación

Pregunta 5 de 10

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

Selecciona una de las siguientes respuestas posibles:

  • APOE ε4

  • Presenilin 1

  • Presenilin 2

  • PARK

Explicación

Pregunta 6 de 10

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Rellena el espacio en blanco para completar el texto.

What is the first step in the central dogma?

Explicación

Pregunta 7 de 10

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

Selecciona una de las siguientes respuestas posibles:

  • 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

Explicación

Pregunta 8 de 10

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

Selecciona uno de los siguientes:

  • VERDADERO
  • FALSO

Explicación

Pregunta 9 de 10

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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?

Selecciona una de las siguientes respuestas posibles:

  • The mutation has variable penetrance

  • The mutation has absolute penetrance

  • The mutation has relative penetrance

Explicación

Pregunta 10 de 10

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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?

Selecciona una de las siguientes respuestas posibles:

  • 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

Explicación

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