Instructions: This exam is composed of multiple-choice questions, short answer questions, and
case study questions. Please read each question carefully and select the best answer. For short
answer questions, provide brief but comprehensive answers. For case study questions, read the
scenario and answer the questions based on the information provided.
Section A: Multiple Choice Questions (5 points each)
Select the best answer for each question.
1. Which of the following is NOT a type of genetic variation
a. Single nucleotide polymorphism (SNP)
b. Copy number variation (CNV)
c. Chromosomal rearrangement
d. RNA sequencing (RNA-seq)
2. What is the most commonly used method for detecting genetic variation?
a. PCR
b. Sequencing
c. Microarrays
d. Southern blotting
3. What is the purpose of allele nomenclature?
a. To identify individuals in a population
b. To label genetic variations consistently
c. To measure genetic diversity in a population
d. To measure the frequency of a particular allele in a population
4. Which of the following is a type of chromosomal variation?
a. Single nucleotide polymorphism (SNP)
b. Copy number variation (CNV)
c. Inversion
d. Deletion
5. Which of the following genotyping methods can detect thousands of SNPs in a single
assay?
a. PCR
, b. Sequencing
c. Microarrays
d. Southern blotting
6. Which of the following is a type of structural variation?
a. Single nucleotide polymorphism (SNP)
b. Copy number variation (CNV)
c. Inversion
d. Missense mutation
7. What is the difference between a heterozygous and homozygous individual?
a. Heterozygous individuals have two different alleles at a particular locus, while
homozygous individuals have two identical alleles.
b. Heterozygous individuals have two identical alleles at a particular locus, while
homozygous individuals have two different alleles.
c. Heterozygous individuals have only one allele at a particular locus, while homozygous
individuals have two different alleles.
d. Heterozygous individuals have only one allele at a particular locus, while homozygous
individuals have two identical alleles.
8. Which of the following is NOT a commonly used genotyping method?
a. Sanger sequencing
b. Microarrays
c. Southern blotting
d. Polymerase chain reaction (PCR)
9. Which of the following is an example of copy number variation (CNV)?
a. Single nucleotide polymorphism (SNP)
b. Deletion of a segment of DNA
c. Insertion of a segment of DNA
d. Point mutation
10. Which of the following is a type of single nucleotide polymorphism (SNP)?
a. Deletion of a segment of DNA
b. Insertion of a segment of DNA