Petigree analysis Flashcards
What are the three forms on inheritance for monogenetic disease
X linked: Father cannot pass to son. expressed more in men than women. in son has it then mother is a carrier
Dominent (autosomal): Shows up in all generations. anyone who has the trait also has a parent expressing the trait.
Resesive (Autosomal): Not in every generation. requires homozygous for trait. can be passed on by two carriers (not exspressed)
What are two ways of looking at mutations
Loss of function/ gain of function:
LOF = ressesive as the second copy of gene will produce enough protein to make up for difficent copy
GOF = Dominent as overshadows due to being more producive or having a new effect
Ressesive or domint
ressesisve = homozygot = phenotype
dominent = hetrozygot = phenotype
How are monogenetic dieases screened
Genome is sequenced and compaired to referance gneome. Common sectons are ignored
novel varients are looked at, some identified with potenial for diease, these are then tested to check for diease
What are the two types of dieases
monogenetic diease
polygenetic disease
What are poly genetic diseases - what propertiy about inheritance does this give poly genetic disorders
Poly genetic dieases dont follow simple inheritance patturns
they are impacted by many genes and the envrioemnt. most dieases are polygenetic
Probabilistic not deterministsic
Why are mutations goodin a population and what are the two types of mutations which can occur
Mutation is the driving force of evolution, the rate of evolution is proportinal to the rate of mutation.
Can have two types: Positive or deletarious
how to screen for a polygenetic disease
Using an effected group who have the phenotype and a comtrol group who dont. both must be very large. seconds in the effected group not in the control group could be associated with the phenotype
Give 1 example of loss of function gain of function and x linked
recessive: cystic fibrosis
dominent: huntingtons
x linked: heamophillia
