GEN (Mastick): autosomal dominant and recessive Flashcards
Vertical pattern of inheritance
means disease phenotype is seen generation after generation
Recurrence risk for autosomal dominant
50%
Sex-ratio
equal numbers of affected males and females (usually tho)
is father to son disease transmission possible in autosomal dominant diseases?
fasho fasho
for dominant disorders, what’s the disease frequency?
2pq coz 2q homozygotes are rare
Conditions to assign autosomal dominant pedigrees
- 100% penetrance
2. no delayed age of onset
FH vs cardiovascular disease: what’s the difference in onset and penetrance between the two?
FH: present very early and 100%penetrant
CD: age dependent and NOT 100% penetrant
What’s the frequency of unrelated individuals?
Always assume unaffected unless there’s a high disease frequency
T/F? usually is two deletrious dominant alleles lethal?
many times but not always. FH is deadly if two alleles
Postaxial polydactyl
autosomal dominant
how penetrant is FH?
one hunda
Chance of having homozygous FH?
1/Million
Many recessive orders affect what pathways?
Metabolic ones. pretty common 1/2000 births
In case of PKU, what’s elevated?
phenylalaline!
Horizontal inheritance is common in what?
from siblings to sibings but more rare in earlier generations. it’s common in recessive diseases.
