Genetics Flashcards
A patient has the disease but is showing no symtpoms, what do you refer to them as?
Non-penetrance
Dominant negtive
Expression of abdnormal protein interferes with normal protein
(negative result is negative)
What 3 factors contribute to eczema?
Skin barrier function
Environmental
Immunology
(genetic factors)
What single gene has an effect on eczema?
Filaggrin - filament aggregating protein
more common in Causaian
Causes
ichythyosis vulagrais
Hyperpalmarimiarity palms (wrinkly hands)
Itchy skin
Personalised or precision medicine is best for…
most effective for highly penetrave disease
Complex traits usually result from multiple high penetracne genetic effects and multiple environmental effects
False - low penetrance
RNA based therapy
Acts on mRNA
Mosaicism
Can be seen in skin
Present in many tissues
Where cells have different genotypes
NOT always pathogenic
