17719220
Beschreibung
Quiz von Matthew Coulson, aktualisiert more than 1 year ago
|
Erstellt von Matthew Coulson
vor mehr als 5 Jahre
|
|
Frage 1
Frage
Array CGH:
Antworten
-
Only detects Balanced Chromosome Translocations
-
Only detects Unbalanced Chromosome Translocations
-
Detects both Balanced and Unbalanced Chromosome Translocations
Frage 2
Frage
Neurofibromatosis has an [blank_start]autosomal dominant[blank_end] inheritance pattern.
Antworten
-
Autosomal dominant
-
Autosomal recessive
-
X-linked dominant
-
X-linked recessive
-
Mitochondrial
Frage 3
Frage
[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.
Antworten
-
Nonsense mutation
-
Missense mutation
Frage 4
Frage
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.
Antworten
-
synonymous
-
quiet
-
pointless
-
convertable
-
identical
-
correspondent
Frage 5
Frage
Which of the following is the most commonly mutated gene causing sporadic onset Alzheimer's Disease?
Antworten
-
APOE ε4
-
Presenilin 1
-
Presenilin 2
-
PARK
Frage 6
Frage
What is the first step in the central dogma?
[blank_start]Transcription[blank_end]
Antworten
-
Transcription
Frage 7
Frage
Next generation sequencing of genes has an advantage over sanger (conventional) sequencing because ...
Antworten
-
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
Frage 8
Frage
Array comparative genomic hybridisation (aCGH) is preferable to karyotyping as a first test for chromosomal analysis because it has a higher resolution
Antworten
- True
- False
Frage 9
Frage
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?
Antworten
-
The mutation has variable penetrance
-
The mutation has absolute penetrance
-
The mutation has relative penetrance
Frage 10
Frage
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?
Antworten
-
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
Möchten Sie mit GoConqr kostenlos Ihre eigenen Quiz erstellen? eigenen Mehr erfahren.