17719220
Beschreibung
Quiz von Matthew Coulson, aktualisiert more than 1 year ago
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Erstellt von Matthew Coulson
vor etwa 5 Jahre
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Array CGH:
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Only detects Balanced Chromosome Translocations
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Only detects Unbalanced Chromosome Translocations
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Detects both Balanced and Unbalanced Chromosome Translocations
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Neurofibromatosis has an [blank_start]autosomal dominant[blank_end] inheritance pattern.
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Autosomal dominant
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Autosomal recessive
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X-linked dominant
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X-linked recessive
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Mitochondrial
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[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.
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Nonsense mutation
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Missense mutation
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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.
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synonymous
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quiet
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pointless
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convertable
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identical
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correspondent
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Which of the following is the most commonly mutated gene causing sporadic onset Alzheimer's Disease?
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APOE ε4
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Presenilin 1
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Presenilin 2
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PARK
Frage 6
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What is the first step in the central dogma?
[blank_start]Transcription[blank_end]
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Transcription
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Next generation sequencing of genes has an advantage over sanger (conventional) sequencing because ...
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It allows sequencing of a much larger number of genes
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It is able to pick up mutations while discarding polymorphisms
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It samples a smaller number of genes, however is up to 4 times more accurate
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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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- True
- False
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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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The mutation has variable penetrance
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The mutation has absolute penetrance
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The mutation has relative penetrance
Frage 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?
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The mutation is present in the child but not the parents
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The mutation is present in both the child and the parents
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The mutation is present on both X chromosomes
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Mother's sister has a daughter with severe learning difficulties
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