17719220
Descrição
Quiz por Matthew Coulson, atualizado more than 1 year ago
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Criado por Matthew Coulson
mais de 5 anos atrás
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Questão 1
Questão
Array CGH:
Responda
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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
Questão 2
Questão
Neurofibromatosis has an [blank_start]autosomal dominant[blank_end] inheritance pattern.
Responda
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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
Questão 3
Questão
[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.
Responda
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Nonsense mutation
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Missense mutation
Questão 4
Questão
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.
Responda
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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
Questão 5
Questão
Which of the following is the most commonly mutated gene causing sporadic onset Alzheimer's Disease?
Responda
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APOE ε4
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Presenilin 1
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Presenilin 2
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PARK
Questão 6
Questão
What is the first step in the central dogma?
[blank_start]Transcription[blank_end]
Responda
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Transcription
Questão 7
Questão
Next generation sequencing of genes has an advantage over sanger (conventional) sequencing because ...
Responda
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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
Questão 8
Questão
Array comparative genomic hybridisation (aCGH) is preferable to karyotyping as a first test for chromosomal analysis because it has a higher resolution
Responda
- True
- False
Questão 9
Questão
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?
Responda
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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
Questão 10
Questão
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?
Responda
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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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