2.2.6 Flashcards

1
Q

What is FH?

A

a genetic disorder that increases the likelihood of having coronary heart disease at a younger age.

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2
Q

Is FH caused by a chromosomal abnormality or a genetic mutation?

A

It is caused by a genetic mutation and is on chromosome 19.

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3
Q

How does having FH impact the body?

A

It could lead to high blood pressure causing a heart attack.

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4
Q

How is FH inherited?

A

It is inherited as an autosomal dominant trait, which means that you only need to get the abnormal gene from one parent to inherit familial hypercholesterolemia.

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5
Q

What members of the Kim family have FH?

A

Jia Justin and Amy

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6
Q

How can you use techniques in molecular biology to peek into the genes?

A

You can use gel electrophoresis

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7
Q

How can you explain the likelihood of future generations having FH?

A

By creating a punnet square.

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8
Q

What treatments are available?

A

The treatment options available are LDL lowerers, or an absorption inhibitor.

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9
Q

How can lifestyle modifications help manage the condition?

A

Lifestyle changes that are recommended are diet changes, exercise, and no smoking.

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10
Q

Polymerase chain reaction (PCR)

A

A lab technique for amplifying DNA in-vitro.

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11
Q

Restriction enzymes

A

A degradative enzyme that recognizes specific nucleotide sequences and cuts DNA at these sequences called restriction sites.

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12
Q

RFLPs

A

Variations in DNA fragment sizes produced when DNA is cut with restriction enzymes.

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13
Q

Gel electrophoresis

A

separates nucleic acids or proteins based on their size and electrical charge for analytical purposes.

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14
Q

homozygous normal for the LDL receptor

A

(ff)

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15
Q

Heterozygous for the defective LDL receptor

A

(Ff)

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16
Q

HDL

A

(good cholesterol)

17
Q

LDL

A

(bad cholesterol)

18
Q

Total cholesterol

A

200 mg/dL

19
Q

atherosclerosis

A

narrowing of the arteries

20
Q

Statin therapy

A

drugs that can lower your cholesterol.

21
Q

An accumulation or build-up of a fatty substance (cholesterol) on the walls of arteries is called

A

plaque.

22
Q

The type of gel being used for electrophoresis is called

A

agarose.

23
Q

The gene that causes familial hypercholesterolemia is

A

autosomal dominant and caused by a defect in the LDL receptor.

24
Q

People with familial hypercholesterolemia (FH) . . .

A

-high cholesterol in their blood
-have high levels of LDL in their blood
-take medication while watching their diet and following an exercise routine.

25
Q

In order to expel (release) all of the liquid sample using a micropipette, you

A

depress the plunger all the way down.

26
Q

In order to visual differences in DNA genotypes (like who is FF, who is Ff, who is ff), we first cut DNA with Restriction enzymes. Before this step, we need to

A

use PCR to amplify the DNA.

27
Q

Familial hypercholesterolemia is a disorder that

A

causes unusually high blood LDL cholesterol levels.

28
Q

Many of genetic tests available today can be bought at a local pharmacy without a prescription, a sample given and sent to a company that will analyze the sample and send the results usually by mail, email or app notification within a few days. This type of testing is called, specifically in this instance,

A

direct-to-consumer testing.

29
Q

Familial hypercholesterolemia (FH) is a disease that causes unusually high cholesterol levels in the blood that can lead to atherosclerosis and heart attacks if not treated properly. This disease is caused specifically by

A

a mutation in the LDLR gene.

30
Q

The process of amplifying or making lots of copies of a sample of DNA is called _________________ or PCR.

A

polymerase chain reaction

31
Q

polymerase chain reaction

A

75%

32
Q

High LDL cholesterol levels in the blood can directly lead to

A

-atherosclerosis.

-plaque buildup in the blood.

-a heart attack.

33
Q

Individuals that are unaffected (Normal) for FH can potentially correct high cholesterol with diet and exercise.

A

True

34
Q

What does an Epidemiologist do?

A

They study trends in health issues in populations

35
Q

A _____ disease is one that occurs infrequently and irregularly

A

Sporadic

36
Q

A sudden increase in the number of cases of a disease in a population is called an ___________

A

outbreak

37
Q

A disease that is perpetually present in a community or population within a specific geographic area is known as an _______

A

Endemic

38
Q

An epidemic that has pread across several countries or continents and affects a large number of people known as a ___________

A

Pandemic

39
Q

Another name for a “Hospital Acquired Infection” is a _____________ infection

A

Nosocomial