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.