Transition Block - Genetics

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Array CGH:

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

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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.

Nonsense mutation

Missense mutation

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

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What is the first step in the central dogma?

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

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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

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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?

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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?

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

Transition Block - Genetics

Array CGH:

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

❌: 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.

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

What is the first step in the central dogma?

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

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

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?

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?

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

❌: 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.