Flashcards in Genetics Deck (13)
List the clinical features of tuberose sclerosis
Tuberose sclerosis is autosomal recessive. True/False?
What is meant by non-penetrance?
Having the mutation but not having features of the disease
In autosomal dominance, what is the % risk of affected child if a parent is affected?
Which genes become mutated to cause tuberose sclerosis?
N.B. only either 1 or 2 becomes mutated
Which inhibitors partially correct tuberose sclerosis?
Tuberose sclerosis is a common disorder. True/False?
It is a high penetrance Mendelian disorder (so not common)
What is epidermolysis bullosa?
A group of genetic skin fragility conditions involving blistering and erosion
Simplex EB affects ?
Junctional EB affects ?
Dystrophic EB affects ?
Simplex EB affects epidermis
Junctional EB affects DEJ
Dystrophic EB affects dermis
What is meant by haploinsufficiency disease?
One gene can't produce the protein, so you end up with less protein overall
What is the most common genetic dermatological condition? What inheritance pattern does it have?
Neurofibromatosis type 1
How does a mutated NF1 gene cause neurofibromatosis?
NF1 is responsible for switching off cell cycle
Mutated NF1 therefore promotes excessive cell proliferation