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Principles of Disease > Mendelian Inheritance > Flashcards

Flashcards in Mendelian Inheritance Deck (10):
1

What do disease associated mutations alter?

protein function

2

What cause sickle cell disorders?

abnormal HB gene

3

Describe SCD.

-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

4

Describe the prevalence of CF.

-There is a north-west to south-east gradient across Europe
-1/25 in UK a carrier
-1/2500 affected

5

Rules of a pedigree

-Boys square
-Girls circle
-Diagonal line= deceased
-Shaded-affected

6

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

7

How can Huntington's be described?

-autosomal dominant
-neuro-degenerative

8

What is the genetics behind Duchenne Muscular Dystrophy??

X linked

9

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

10

What is the genetics behind Achondroplasia?

autosomal dominant inheritance