Total cholesterol in blood is reported as the number of milligrams (mg) of chole

Question

Total cholesterol in blood is reported as the number of milligrams (mg) of cholesterol per 100 milliliters (ml) of blood. The normal range is 180-220 mg/100 ml. A gene mutation altering the function of cell-surface cholesterol receptors restricts the ability of cells to collect cholesterol from blood and draw it into cells. This defect results in elevated blood cholesterol levels. Individuals who are heterozygous for a mutant allele and a wild type allele have levels of 300-600 mg/100 ml, and those who are homozygous for the mutation have levels of 800-1000 mg/100 ml. Circle ALL of the terms below that correctly describe this form of elevated cholesterol levels.

Haplosufficient

Haploinsufficient

Loss of function

Gain of function

Null/Amorphic

Neomorphic

Hypomorphic

Dominant negative

Hypermorphic

Explanation / Answer

Answer:

Haploinsufficient:

Loss of function : increases the LDL cholesterol levesl

Neomorphic : gain in function, so abnormality

Hypomorphic : cholesterol levels increases

Dominant negative : Increases plasma cholesterol levels

Hypermorphic: Chloresterol levels increases

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