Pedigrees and Risk Flashcards

1
Q

What does a black square represent on pedigree diagram?

A

Affected male

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2
Q

What does a black circle represent on pedigree diagram?

A

Affected female

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3
Q

What does a white square represent on pedigree diagram?

A

Unaffected male

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4
Q

What does a white circle represent on pedigree diagram?

A

Unaffected male

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5
Q

Which 2 types of inheritance affect the calculated risk?

A
  1. X-linked
  2. Mitochondrial
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6
Q

Why can ethnicity affect the risk of inheriting a disease? (2)

A
  1. Heterozygote advantage eg. CF
  2. Founder effect
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7
Q

What is the proband?

A

Individual within a family or a group who is the starting point for the study or analysis of a genetic condition

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