2.2.6 Flashcards
What is FH?
a genetic disorder that increases the likelihood of having coronary heart disease at a younger age.
Is FH caused by a chromosomal abnormality or a genetic mutation?
It is caused by a genetic mutation and is on chromosome 19.
How does having FH impact the body?
It could lead to high blood pressure causing a heart attack.
How is FH inherited?
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.
What members of the Kim family have FH?
Jia Justin and Amy
How can you use techniques in molecular biology to peek into the genes?
You can use gel electrophoresis
How can you explain the likelihood of future generations having FH?
By creating a punnet square.
What treatments are available?
The treatment options available are LDL lowerers, or an absorption inhibitor.
How can lifestyle modifications help manage the condition?
Lifestyle changes that are recommended are diet changes, exercise, and no smoking.
Polymerase chain reaction (PCR)
A lab technique for amplifying DNA in-vitro.
Restriction enzymes
A degradative enzyme that recognizes specific nucleotide sequences and cuts DNA at these sequences called restriction sites.
RFLPs
Variations in DNA fragment sizes produced when DNA is cut with restriction enzymes.
Gel electrophoresis
separates nucleic acids or proteins based on their size and electrical charge for analytical purposes.
homozygous normal for the LDL receptor
(ff)
Heterozygous for the defective LDL receptor
(Ff)
HDL
(good cholesterol)
LDL
(bad cholesterol)
Total cholesterol
200 mg/dL
atherosclerosis
narrowing of the arteries
Statin therapy
drugs that can lower your cholesterol.
An accumulation or build-up of a fatty substance (cholesterol) on the walls of arteries is called
plaque.
The type of gel being used for electrophoresis is called
agarose.
The gene that causes familial hypercholesterolemia is
autosomal dominant and caused by a defect in the LDL receptor.
People with familial hypercholesterolemia (FH) . . .
-high cholesterol in their blood
-have high levels of LDL in their blood
-take medication while watching their diet and following an exercise routine.
In order to expel (release) all of the liquid sample using a micropipette, you
depress the plunger all the way down.
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
use PCR to amplify the DNA.
Familial hypercholesterolemia is a disorder that
causes unusually high blood LDL cholesterol levels.
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,
direct-to-consumer testing.
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 mutation in the LDLR gene.
The process of amplifying or making lots of copies of a sample of DNA is called _________________ or PCR.
polymerase chain reaction
polymerase chain reaction
75%
High LDL cholesterol levels in the blood can directly lead to
-atherosclerosis.
-plaque buildup in the blood.
-a heart attack.
Individuals that are unaffected (Normal) for FH can potentially correct high cholesterol with diet and exercise.
True
What does an Epidemiologist do?
They study trends in health issues in populations
A _____ disease is one that occurs infrequently and irregularly
Sporadic
A sudden increase in the number of cases of a disease in a population is called an ___________
outbreak
A disease that is perpetually present in a community or population within a specific geographic area is known as an _______
Endemic
An epidemic that has pread across several countries or continents and affects a large number of people known as a ___________
Pandemic
Another name for a “Hospital Acquired Infection” is a _____________ infection
Nosocomial
