Genetics DSA Flashcards

1
Q

What is Lyonization AKA? What is the definition of Lyonization?

A

Lyonization= X-inactivation

Females that have 2 X chromosomes, so one is inactivated

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2
Q

What is the definition of Mosaicism? Why does this occur?

A

Two or more populations of cells with different genotypes in an individual who has developed from a single fertilized egg.

This results from errors in cell division.

Ex. Turner Syndrome 45 XO
Klinefelter Syndrome 47 XXY
Down Syndrome: 47 XX +21

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3
Q

What is Thalassemia? What does Thalassemia lead to?

A

Mutation in Hemoglobin that leads to the underproduction of hemoglobin

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4
Q

What kind of mutation leads to MERRF?

A

Mutation in the tRNA gene for Lysine

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5
Q

What kind of mutation leads to MELAS?

A

Mutation in the tRNA gene for Leucine

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6
Q

The nucleus is the principle site for the synthesis of what 2 products?

A

DNA and RNA

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7
Q

The ER is the principle site for the synthesis of what 2 macromolecules? What 2 other activities occur here?

A

Synthesis of proteins and lipids

Protein folding
Storage of calcium

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8
Q

The Golgi apparatus is the principle site of what?

A

PTMs on proteins and lipids

Trafficking of molecules

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9
Q

What are the 2 main functions of the mitochondria?

A

Make ATP

Signaling cell death

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10
Q

What is the difference between lysosomes and peroxisomes?

A

Lysosomes- degrade molecules using digestive enzymes

Peroxisomes- use enzymes in oxidative reactions

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11
Q

What is the function of RER?

A

Making proteins that are destined to be secreted

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12
Q

Does the RER contain ribosomes?

A

Yes

Note that the smooth ER does not contain ribosomes because it is the where lipids are formed

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13
Q

What do clathrin coated vesicles transport products from and to?

A

From the Golgi apparatus and to the lysosomes

From the Exterior of the cell to the lysosomes

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14
Q

What does COP I coated vesicles transport products between?

A

Between stacks of the golgi apparatus (cis -> trans)

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15
Q

What does COP II coated vesicles transport products between?

A

From the ER to the Cis Golgi

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16
Q

What occurs when the endosome undergoes is final maturation form?

A

Internal pH is lowered to 5.5

17
Q

What occurs during familial hypercholesterolemia?

A

LDL receptor is mutated in 3 possible ways:
Incapable of binding LDL
Have reduced capacity
Able to bind but incapable of being internalized

18
Q

What are the 4 functions of the peroxisome?

A

Synthesis/degradation of hydrogen peroxide
Bile/Cholesterol synthesis
Beta-oxidation of long chain fatty acids
Detoxifying alcohol