Pedigree Analysis Flashcards

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1
Q

What symbol represents unaffected individuals?

A

Open symbols

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2
Q

What symbol represents affected individuals?

A

Filled symbols

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3
Q

What symbol represents females?

A

Circles

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4
Q

What symbol represents males?

A

Squares

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5
Q

What are the categories of inheritance?

A
Autosomal recessive 
Autosomal dominant 
X-linked recessive 
X-linked dominant 
Mitochondrial
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6
Q

What would make a mutation autosomal?

A

If it is on an autosomal chromosome

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7
Q

What would make a mutation recessive?

A

When heterozygotes do not have the disease because the enzyme activity is sufficient

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8
Q

What is present in an AD pedigree chart?

A

Found in each generation
Affects males and females equally
Father to son transmission is possible

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9
Q

What would make a mutation dominant?

A

When heterozygotes do have the disease

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10
Q

What is present in an XR pedigree chart?

A

Skips generations
More common in males
If the father is affected then all the daughters carry it but no sons are affected
If the mother carriers it then the sons might be affected and the daughters might be carriers

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11
Q

Why would something be X-linked?

A

It is in the unique part of X

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12
Q

What is found in a typical XD pedigree chart?

A

Found in each generation
Affects males and females equally
If the mother is affected then sons and daughters might be affected
If the father is affected then all daughters are affected but no sons are affected

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13
Q

What is mitochondrial inheritance?

A

Only the mother can pass on the mitochondria, if the oocyte carriers a mutant allele then the child will be affected

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14
Q

What is found in a typical M pedigree chart?

A

If the mother is affected then all offspring is affected

If the father is affected then no offspring is affected

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