13.2 Genetics and Inheritance Flashcards

1
Q

What is the name of the genes on the proximal and distal ends of the sex chromosomes that are inherited in the same manner as autosomal genes? How?

A
  • Pseudo Autosomal Regions
  • Same between males and females
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2
Q

What is an inactivated X chromosome called during X inactivation?

A

Barr Body

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3
Q

When does X inactivation occur in a human?

A

Early in embryonic life

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4
Q

Is X chromosome inactivation random or pre-determined?

A

Random; about 50:50 split between cells

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5
Q

Is X inactivation maintained throughout cell division?

A

Yes

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6
Q

X inactivation mech

A
  • One of two X chromosomes express Xist on X inactivation centre
  • When expressed, Xist forms Xist RNA that coats entire Xi chromosome (heterochromatization)
  • Maintained throughout division
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7
Q

What are the consequences of X inactivation

A

Females contain a mixture of cells that contain active paternal and maternal X chromosomes, leading to different expression of cells throughout the entire organism

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8
Q

Is mitochondrial inheritance maternal or paternal?

A

Maternal

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9
Q

Is mitochondrial DNA linear or circular?

A

Circular (endosymbiotic theory)

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10
Q

Is mitochondrial DNA packaged into chromatin by histones?

A

No

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11
Q

Why is mitochondrial DNA maternally inherited?

A

The only DNA passed on from sperm is that from the nucleus of the sperm, the mitochondria of sperm remain outside the fertilized egg., Therefore, mtDNA cannot be paternally inherited.

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12
Q

How can mtDNA mutations be passed from an unaffected mother to an affected child?

A

High prominence of mutated mitochondria in oocyte that is fertilized before birth. This is why heteroplasmy can be dangerous/

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13
Q

Why do some diseases affecting mitochondrial function not show mitochondrial inheritance?

A

Because they may be caused by mutation of genes in the nuclear genome that lead to mitochondrial dysfunction instead of within mtDNA genome.

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