Question 1

Which of the following best defines a genetic polymorphism?

Accepted Answer

The inheritance of a trait controlled by a single genetic locus with two alleles, in which the least common allele has a frequency of about 1% or greater.

Question 2

Which statement correctly distinguishes a mutation from a polymorphism?

Accepted Answer

A mutation is any DNA sequence change, but a polymorphism is a variation with a frequency of at least 1% in the population.

Question 3

Which of the following is NOT an example of a protein polymorphism discussed in the study materials?

Accepted Answer

Hemoglobin S (sickle cell mutation)

Question 4

A patient is found to be a poor metabolizer of codeine due to a genetic variant in CYP2D6. This is an example of:

Accepted Answer

A protein polymorphism affecting drug metabolism

Question 5

Which equation correctly represents the calculation of allele frequency for the 'A' allele in a population, given $$n_{AA}$$, $$n_{AO}$$, and $$n_{total}$$ individuals?

Accepted Answer

$$f(A) = \frac{2n_{AA} + n_{AO}}{2n_{total}}$$

Question 6

Which of the following statements about ABO blood group antigens is TRUE?

Accepted Answer

They are integral parts of the red cell membrane and also present in plasma.

Question 7

If a child has blood type AB, which of the following parental genotype combinations is NOT possible?

Accepted Answer

Parent 1: OO, Parent 2: AB

Question 8

Which of the following best explains why a rare disease allele in one population can become a polymorphism in another?

Accepted Answer

Because the allele frequency can increase above 1% due to genetic drift or selection.

Question 9

Which of the following is a consequence of protein variation among individuals?

Accepted Answer

Individuals may respond differently to medications due to differences in drug-metabolizing enzymes.

Question 10

A person with genotype $$I^A I^O$$ for the ABO gene will have which blood type?

Accepted Answer

Type A

Question 11

Which of the following statements about the distribution of ABO alleles in the world population is correct?

Accepted Answer

The frequency of ABO alleles varies among different populations and ethnic groups.

Question 12

Which of the following is TRUE regarding cell surface antigens?

Accepted Answer

They can be proteins, carbohydrates, glycoproteins, or glycolipids.

Question 13

Which of the following is a reason why polymorphic sequence variation can influence drug responses?

Accepted Answer

Polymorphisms can alter the activity of drug-metabolizing enzymes.

Question 14

Which of the following is NOT a method for determining ABO blood type?

Accepted Answer

Observation of red blood cell morphology under a microscope

Question 15

A person with blood type O can safely receive blood from which donor types?

Accepted Answer

Type O only

Question 16

Which of the following is a correct statement about the inheritance of ABO blood types?

Accepted Answer

Each parent contributes one allele to the offspring's genotype.

Question 17

Which of the following is a plausible consequence of protein polymorphism in the context of human health?

Accepted Answer

Variation in HLA proteins can influence immune responses and disease susceptibility.

Question 18

Which of the following is TRUE about the frequency of heterozygosity for protein-coding alleles in humans?

Accepted Answer

About 20% of loci are heterozygous for structurally different polypeptides in any one individual.

Question 19

Which of the following is a key difference between the A, B, and O antigens in the ABO blood group system?

Accepted Answer

They differ in the carbohydrate structure present on the surface of red blood cells.

Genetic Variation: Protein Polymorphisms and Human Blood Groups

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