Mendelian Inheritance Flashcards Preview

Principles of Disease > Mendelian Inheritance > Flashcards

Flashcards in Mendelian Inheritance Deck (10)
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1
Q

What do disease associated mutations alter?

A

protein function

2
Q

What cause sickle cell disorders?

A

abnormal HB gene

3
Q

Describe SCD.

A
  • 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
Q

Describe the prevalence of CF.

A
  • There is a north-west to south-east gradient across Europe
  • 1/25 in UK a carrier
  • 1/2500 affected
5
Q

Rules of a pedigree

A
  • Boys square
  • Girls circle
  • Diagonal line= deceased
  • Shaded-affected
6
Q

Describe autosomal dominant inheritance.

A
  • Each child has a 50% chance of inheriting the mutation
  • no skipped generations
  • equally transmitted by men and women
  • male to male transmisision
7
Q

How can Huntington’s be described?

A
  • autosomal dominant

- neuro-degenerative

8
Q

What is the genetics behind Duchenne Muscular Dystrophy??

A

X linked

9
Q

Describe X linked/ sex linked inheritance.

A
  • only males affected classically
  • can skip generations
  • unaffected women and affected men can transmit condition
  • no male to male transmission
10
Q

What is the genetics behind Achondroplasia?

A

autosomal dominant inheritance