Mendelian Inheritance Flashcards
disease-associated mutations alter
protein function
- nonfunctional
sickle cell disorders are caused by
abnormal HB gene
in a carrier there is some
protein function and so they may not show signs
in those that are affected
all protein function is mutated and symptoms may show
single mutation involves
one gene
organs affected by cystic fibrosis
- sinus (infection)
- lungs (thick sticky mucus build up - widened airways)
- skin (sweat glands produce salty sweat)
- liver (blocked biliary ducts)
- pancreas (blocked pancreatic ducts)
- intestines (cannot fully absorb nutrients)
- reproductive organs (male and female complications)
example of single gene mutation
cystic fibrosis
- common in europe
- 1/25 in UK is carrier
Dominant inheritancedisease-associated Mutations Alter
Protein Function
- nonfunctional
- missing protein
- rotein with a gain of function
autosomal dominant is when having
one copy of the gene you become affected.
- this is dominant inheritance
in autosomal dominant inheritance, each child has
- 50% chance of inheriting mutation
- no skipped generations
- equally transmitted by men and women
- male to male transmission
example of autosomal dominant inheritance
- Achondroplasia
- affects height - Huntingtons disease
- neuro-degenerative - late onset
in haemophilia, when the father is affected but mother isn’t then
all the daughters will carry the haemophillia disease.
- sons are not affected
in haemophilia, when the mother carries the gene but father isn’t then
all sons have 50% risk of being affected by haemophilia.
all daughters have 50% risk of being carriers.
daughters who have the haemophilia disease
are carriers and are not affected
sons who have the haemophilia disease
are affected.
