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Pathophysiology > Cellular Function > Flashcards

Cellular Function Flashcards

1
Q

Genetics or Genomics

The study of individual genes, which are typically passed on in a Mendelian pattern

A

Genetics

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2
Q

Genetics or Genomics

The study of the entire genetic makeup and how it interacts with the environment and stressors on the body

A

Genomics

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3
Q

Genetics or Genomics

An example of this is cystic fibrosis

A

Genetics

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4
Q

Genetics or Genomics

An example of this is the identification of a number of genes that may be implicated in Alzheimer’s disease

A

Genomics

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5
Q

True or False

Every human’s genome is 90% similar to another human being.

A

False

It is 99.9% identical with 0.1% being different

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6
Q

Which of the following is the correct definition of a single nucelotide polymorphism?

A

It is when one allele is different that the allele in most of the population.

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7
Q

There is a difference in a base pair between two individuals, what does this mean?

A

This is a SNP and can be related to a disease, a difference in physical appearance or make no difference at all.

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8
Q

How is a GWAS conducted?

A

Two groups of individuals are studied, those with a disease and those without. The genome of both are compared looking for SNPs. This points researchers in the direction of the part of the genome that may be responsible for diseases.

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9
Q

True or False

Epigenetics means we have now discovered that there is a way to change our own DNA make-up. Ex: we can make a base pair a C instead of an A.

A

False

Epigenetics does not mean that the DNA changes, but the expression changes.

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10
Q

What is an analogy for methyl groups in epigenetics?

A

Switch (on/off)

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11
Q

What is an analogy for histone protein patterns in epigenetics?

A

knob (fine tuning changes)

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12
Q

What is an analogy for DNA in epigenetics?

A

Hardware

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13
Q

What is an analogy for epigenetics?

A

software

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14
Q

True or False

Your own epigenetics was influenced by the environment of your grandmother.

A

True

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15
Q

True or False

Epigenetic changes can be passed (inherited) from one generation to another.

A

True

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16
Q

True or False

Epigenetic changes are most susceptible to change during times of growth such as puberty or during pregnancy.

A

True

17
Q

Now that you understand that your own epigenetics can change the health of your child and your grandchild, what are you going to choose for your study snack?

A

an apple!

18
Q

True or False

Epigenetic changes can change over a person’s lifetime.

A

True

19
Q

Using a pedigree chart, how are males represented?

A

Square

20
Q

What is the concern with a consanguinous couple?

A

The two individuals share a common ancestor (are related) and therefore have a higher risk of genetic diseases (autosomal recessive diseases).

21
Q

What are some genetic red flags?

A

Second cancer diagnosis in a 60-year-old woman (ie: she has had two primary types of cancer.)

Heart disease in a 38-year-old female.

High cholesterol in a 40-year-old marathon runner.

Mom and Dad are 1st cousins.

22
Q

There are two major components of CRISPER, what are they?

A

Guide RNA and CAS 9

23
Q

What are the benefits of CRISPR vs. other gene editing tools?

A

cheap, efficent and customizable

24
Q

Which topic, studied in the genomics module, allows one to understand that we can influence the expression of genes through turning them on or off through the additional of methyl groups?

A

Epigenetics

25
Q

What impact does the knowledge of SNPs have for nurses and the future of healthcare?

A

Understanding the connection with mutations in one SNP or a collection of SNPs and the connection with diseases will help us identify patients at risk for disease, but we also understand that environment plays a role in whether the individual will develop the disease.

26
Q

What is a SNP?

A

A single base pair mutation.

27
Q

Understanding epigenetics, how will this potentially influence individuals?

A

Individuals can change their epigenome by manipulating diet, exercise, psychological stressors and other environmental influences.

28
Q

The nurse is reviewing a chart that has a pedigree chart included in the patient history. There is an indication on the chart that the patient and her husband are consanguineous. What does this mean?

A

The patient and her husband are related.

29
Q

The nurse recognizes that which of the following individuals has a “genetic red flag” and should be evaluated for the possibility of a genetic basis to their health condition.

A

A patient who was diagnosed with dementia at the age of 50 years old.

Diagnosis at a younger than normal age is a red flag. In the case of dementia, the age is less than 60 years of age

30
Q

What is CRISPER?

A

A gene editing technology that includes removing a part of the genome and replacing it with genes that are not mutated or don’t have a disease.

31
Q

What is an example of disease that can be explained through genomics?

A

Obesity

Pathophysiology (7 decks)

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