8C Pedigree Analysis Flashcards

1
Q

What are pedigree charts?

A

Pedigree charts are family trees used to analysis patterns of inheritance, and show the expressions of a trait over multiple generations

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2
Q

What can pedigree charts be used for?

A

Pedigree charts can be used to find out the probability of a child having a disorder in a particular family

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3
Q

On a pedigree chart, what does a square represent

A

Represents a male

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4
Q

On a pedigree chart, what does a circle represent

A

Represents a female

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5
Q

On a pedigree chart, what does being white represent?

A

Represents unaffected

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6
Q

On a pedigree chart, what does being coloured represent

A

Represents affected

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7
Q

What does a square/circle with a small coloured-in version in the centre represent?

A

Represents a carrier

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8
Q

What does a diamond represent?

A

Represents unknown sex

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9
Q

How do you use pedigree chart references?

A

The generation of an individual is noted with Roman numerals, ascending from oldest to youngest. The location of an individual in a generation is noted using numbers, ascending from left to right.

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10
Q

What are the steps to interpret a pedigree chart?

A

First determine if the pedigree charts shows as autosomal or x-liked disease, Then determine is the disorder dominate or recessive

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11
Q

How do you determine if the pedigree charts shows as autosomal or x linked disease

A

If most of the males in the pedigree are affected the disorder is x linked, if it is a 50/50 ratio between the men and women the disorder is autosomal

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12
Q

How do you determine if the pedigree charts shows is dominate or recessive

A

If the disorder is dominate, one of the parents must have the disorder, if the disorder is recessive neither parent has to have the disorder because they can be heterozygous

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13
Q

Looking at the flowchart for analysing pedigree charts, explain it

A

Explain it – the 5 options of
- Y linked,
- X linked dominant,
- autosomal dominate,
- x linked recessive and
- autosomal recessive

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14
Q

Looking at the inheritance patterns explain the 5 different ones

A
  • Autosomal dominant – where the gene for a trait or condition is dominant, and is on a non-sex chromosome
  • Autosomal recessive – where the gene for a trait or condition is recessive, and is on a non-sex chromosome
  • X-linked dominant – where the gene for a trait or condition is dominant, and is on the X-chromosome
  • X-linked recessive – where the gene for a trait or condition is recessive, and is on the X-chromosome
  • Y-linked – where the gene for a trait or condition is on the Y-chromosome
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