Mendelian Inheritance Flashcards

1
Q

Cause of sickle cell disorders (SCD)

A

Inherited

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2
Q

Affect of sickle cell disorders

A

RBC become sickle cell shaped which can cause pain tissue damage, infection and death

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3
Q

Possible treatment for SCDs

A

Early treatment by 2months old can improve health and prevent death

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4
Q

What are the chances of a child being a carrier for a disease if both parents are carriers?

A

2/3 - not out of four as you know she is not affected if she may or may not be a carrier

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5
Q

Chances of child being a carrier if one parents is a carrier and the other is not affected nor a carrier?

A

1/2

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6
Q

Principles of autosomal dominant inheritance

A
  • 50% chance of inheriting mutation
  • No skipped generations
  • Male to male transmission
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7
Q

in Auto. Dom., If parents not affected by condition then not carriers - what are the chance of baby inheriting mutation?

A

No chance

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8
Q

Examples of autosomal Dom. inheritance diseases

A
  • Achondroplasia: dwarfism

- Huntington’s disease: neurodegenerative

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9
Q

Principles of X-linked inheritance

A
  • Only males effected classically
  • Can skip generations
  • No male to male transmission
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10
Q

Example of X-linked condition

A

Duchenne muscular dystrophy

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11
Q

Affects of cystic fibrosis

A
  • Lungs: mucus build up
  • Skin: salty sweat
  • Liver: blocked biliary ducts
  • Pancreas: duct blocked
  • intestine: can’t absorb nutrients
  • Reproductive: women reduced fertility
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