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Flashcards in Genetics Deck (15)
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1

What are the signs of tuberose sclerosis?

periungual fibromata
longitudinal ridging
infantile seizures
ash-leaf macule- earlies cutaneous sign (depigmented macule)
hamartomas- an overgrowth of normal tissue (blood, muscles and fat) in heart lungs and kidneys
bone cysts
enamel pitting (teeth)
shagreen patches

2

When mRNA is spliced, what is removed?

introns

3

What is a/ missense mutation

a point mutation in which a single nucleotide change results in a codon that gives a different amino acid

4

What is genetic heterogenity?

different mutations/genes can cause the same disease

5

What allows genetic heterogenity to happen?

DNA codes for different proteins which both take part in the same pathway

6

What is disease expression?

How people are affected by the disease

7

What is spidermolysis bullosa?

a group of genetic skin fragility conditions

8

What are the modes of inheritance of epidermolysis bullosa?

dominant, recessive, new mutation or acquired

9

What do the genes involved in epidermolysis bullosa coe for?

proteins involved in skin structure and adhesion

10

What is a dominant- negative disease mechanism?

mutant protein stops the normal protein working

11

What is haploinsufficiency?

one mutant disease doesnt produce any protein but normal copy does which results in less protein being produces

12

What are cafe au lait macules?

coffee coloured flat marks

13

Are cafe au lait macules always always suggestive of genetic disease?

no- 1 or 2 are found in normal people, more than 5 indicates genetic disease

14

What are the features of neurofibromatosis?

cafe au lait macules
neurofibromas
plexiform neuroma (subcut mass that feels like a "bag of worms"-benign tumour of peripheral nerves)
axillary or inguinal freckling (shouldnt get there as lack of sun)
optic glioma
lisch nodules- pigmented lesion affecting the irises
distinctive bony lesion

15

What is a genetic mutation associated with eczema?

mutation in the protein filaggrin which is a filmanet aggregating protein and prevents water loss