Genetics

Question 1

what is the first step in the central dogma of making a protein from a gene

Answer 1

transcription

Question 2

there is a single base mutation of a C to a T

what is the most likely reason that this has no effect on protein sequence

Answer 2

codon usage shows redundancy

Question 3

man has hypertrophic cardiomyopathy
32yo son has a normal heart but carries the same gene
?

Answer 3

mutation ahs variable penetrance

Question 4

mutation in ASXL3 gene that causes the very rare bainbridge roper syndrome

Answer 4

100% penetrance

low disease frequency

Question 5

common FGFR2 that causes a 1.2 fold increase in breast cancer risk

Answer 5

low penetrance

high disease frequency

Question 6

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

Answer 6

it allows sequencing of a much larger number of genes

Question 7

array comparative genomic hybridisation (aCGH) is preferable to karyotyping as a first test for chromosome analysis because

Answer 7

it has a high resolution

Question 8

strongest piece of evidence that a genetic variant is causing learning difficulties in a child

Answer 8

present in child but not in both normal parents

Question 9

learning difficulties. deletion in a gene that causes learning difficulties. not in either parent. classification of genetic variant

Answer 9

definitely pathogenic

Question 10

20yo has NF1. he has a change in the NF1 gene, it is also seen in 5% of the population

Answer 10

deffo benign

Question 11

what characteristic of a cancer cell is central to a slowing it to acquire further new characteristics

Answer 11

genomic instability

Question 12

ethical principle most important in genetic counselling when someone asks for a genetic test

Answer 12

patient autonomy

Question 13

patients with PTEN mutation have

Answer 13

big heads
vascular malformations
autism
deffo pathogenic

Question 14

PCSK9 mutation causes what

Answer 14

hypercholesterholaemia