Mendelian inheritance Flashcards
what are the features of autosomal dominant inheritance
-each child has 50% chance of inheriting the mutation
-no skipped generations
-male to male transmission occurs here
-male and female transmit
what are examples of autosomal dominant disorder
Achondroplasia
huntingsons dieases
what is x-linked inheritance/features of it
-no male to male transmission
-can skip generations
-only males are affected
-unaffected women can transmit the condition aswell as affected man
in x-linked inheritance who can transmit the condtion
affected males AND UNAFFECTED females
example of x-linked inheritance
duchenne muscular dystrophy
hunter syndrome
what is duchenne msucalr dystrophy characteristed by?
weakness and progessive muscle degradation
how is achondroplasia inherited ?
by autosomal dominant
give 3 examples of autosomal recessive inheritance
cystic fibrosis , sickle cell anemia and TAY..
what causes mendelian disease to occur
multiple genes in the same molecular pathway
how many genes do you need for autosomal recessive inheritance
2 diseased genes, 1 acts as a carrier
how many genes do u need for autosomal dominant
only need 1 diseases gene
describe what achondroplasia actually is as a disease
genetic condition that affects a protein in the body called the fibroblast growth factor receptor
outcome when the father has the haemophilia gene and the mother is unaffected
all their daughters will carry the haemophilia gene but their sons will be unaffected
outcome when the mother has the haemophilia gene but the father is unaffcted
daughter and son have 50 percent change of carrying the gene