genetics Flashcards
1
Q
what does monogenic mean
A
one gene
2
Q
what does polygenic mean
A
multiple genes
3
Q
what line is a mitochondrial genome passed through
A
the maternal line
from mothers
4
Q
what is an indel
A
small insertions and deletions
5
Q
what can small insertions and deletions result in
A
- in frame indels
- out of frame indels
- loss of function
6
Q
benefits of genetic testing
A
- benefit for patient
- benefit for first degree relatives
- academic/research
- future clinical benefits
7
Q
how do you identify those with a hereditary endocrine disease
A
- history and family history
- examination
- young age of onset
- tumour multiplicity
- pathognomonic clinical features
8
Q
where can MEN1 cause tumours
A
3Ps
- parathyroid
- pituitary
- enteropancreatic
- gastric
- bronchial
9
Q
clinical features of MEN1
A
- primary hyperthyroidism
- pancreatic neuroendocrine tumours
- pituitary adenomas
10
Q
is MEN1 dominant or recessive
A
dominant
11
Q
why is managing MEN1 difficult
A
- lack of genotype-phenotype correlation
- variable age-related penetrance
- inability to predict disease course
- asynchronous/synchronous development of multiple tumours
- lack of specific therapies to MEN1
12
Q
is MEN2 dominant or recessive
A
dominant
13
Q
where does MEN2a cause tumours
A
medullar thyroid cancer in association with phaechromocytoma and parathyroid tumours
14
Q
what do MEN2 mutations result in
A
activation of receptor tyrosine kinase
15
Q
what are the two forms of MEN2
A
MEN2A
MEN2B
