Flashcards in Mendelian Inheritance Deck (10):
What do disease associated mutations alter?
What cause sickle cell disorders?
abnormal HB gene
-cause red blood cells to become sickled in shape
-cause pain, cold, dehydration and infections
-jaundice, stroke, leg ulcers, eyes and kidneys affected
-most prominent in Africa, Med, Middle-East and India
-can cause issues with anaesthetic
Describe the prevalence of CF.
-There is a north-west to south-east gradient across Europe
-1/25 in UK a carrier
Rules of a pedigree
-Diagonal line= deceased
Describe autosomal dominant inheritance.
-Each child has a 50% chance of inheriting the mutation
-no skipped generations
-equally transmitted by men and women
-male to male transmisision
How can Huntington's be described?
What is the genetics behind Duchenne Muscular Dystrophy??
Describe X linked/ sex linked inheritance.
-only males affected classically
-can skip generations
-unaffected women and affected men can transmit condition
-no male to male transmission