Chapter 11 Lesson 3 Flashcards

1
Q

What is the definition of autosomal dominant?

A

A trait that is autosomal is on the autosomes, when it is dominant, it only takes one of the dominant alleles for this to be present (Ex: AA or Aa)

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2
Q

What is the definition of autosomal recessive?

A

A trait that is autosomal is on the autosomes, when it is recessive, it takes two recessive alleles, both being the same (Ex: aa)

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3
Q

What is the definition of sex-linked dominant?

A

A trait that is sex-linked is on the sex chromosomes, when it is dominant, it only takes one of the dominant alleles for this to be present (Ex: AA or Aa)

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4
Q

What is the definition of sex-linked recessive?

A

A trait that is sex-linked is on the sex chromosomes, when it is recessive, it takes two recessive alleles, both being the same (Ex: aa)

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5
Q

What is the definition of a carrier?

A

Someone whose genes carry the trait without showing it, this is always going to be a heterozygous allele (Ex: Aa)

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6
Q

What is the definition of x-inactivation?

A

When females have two x chromosomes, they turn into barr bodies, and essentially “shut down”

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7
Q

What is the definition of a pedigree?

A

A way to trace genes, and deseises throughout a family tree

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8
Q

What are the main differences between autosomal dominant and autosomal recessive?

A

Autosomal dominant traits are traits on an autosome that have at least one dominant allele (A_), while autosomal recessive traits are traits on an autosome that have both recessive alleles (aa)

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9
Q

What is a gain of function mutation?

A

A gain of function mutation is a mutation that causes a gene to gain an extra function that it does not normally have which can lead to too much of something being made

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10
Q

What are some things you look for to “rule out” different modes of inheritance in pedigrees?

A

Rule out recessive/dominant. . .
- Are there unaffected parents with an affected child?
- Are there affected parents with an unaffected child?

     Rule out sex-linked. . . If its recessive -- - Are more males than females affected? - Do affected females have affected fathers? - Do affected mothers have affected sons? If its dominant -- -  Do affected males have all affected daughters?
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11
Q

What are the main differences between sex-linked dominant and sex-linked recessive?

A

Sex-linked dominant traits are traits on an sex chromosome that have at least one dominant allele (A_), while sex-linked recessive traits are traits on an sex chromosome that have both recessive alleles (aa)

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12
Q

What are the main differences between autosomal traits and sex-linked traits?

A

Autosomal traits are traits on an autosome, while sex-linked traits are traits on an sex chromosome

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13
Q

What is a loss of function mutation?

A

A mutation where a gene loses a function which leads to it not producing enough of something, which can cause disabilities and disorders

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