Array CGH:
Only detects Balanced Chromosome Translocations
Only detects Unbalanced Chromosome Translocations
Detects both Balanced and Unbalanced Chromosome Translocations
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.
A synonymous quiet pointless convertable identical correspondent( 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.
Which of the following is the most commonly mutated gene causing sporadic onset Alzheimer's Disease?
APOE ε4
Presenilin 1
Presenilin 2
PARK
What is the first step in the central dogma?
Next generation sequencing of genes has an advantage over sanger (conventional) sequencing because ...
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
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?
The mutation has variable penetrance
The mutation has absolute penetrance
The mutation has relative penetrance
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?
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
