L?? - Pedigrees

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10 Terms

1
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What is a pedigree?

A diagram of family relationships that uses symbols and lines

2
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What symbols represent males and females in a pedigree?

Females (XX) - Circles
Males (XY) - Squares

3
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Why are pedigrees important?

  1. Autosomal linked traits are passed on from parents of offspring; independent of sex chromosome

  2. X-linked traits are almost exclusively passed on the X-chromosomes which determines if an individual is an XX or XY

4
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There are four possible MOI?

  1. Autosomal Recessive

  2. Autosomal Dominant

  3. X-Linked Recessive

  4. X-Linked Dominant

5
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What is key to remember when making a pedigree?

Some pedigrees have more than one MOI

No shortcuts to workout which MOI applies

6
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What should you NEVER assume about parents?

Never assume they’re homozygous

7
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Why can’t 1:1 or 1:2 ratios be expected?

Pedigrees are small

8
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What indicates a dominant gene of disease?

Present in every generation and outbred

9
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What indicates a recessive gene of disease?

Skipped generations and inbred

10
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What is Consanguinity?

Sharing blood