Question 1

Which of the following statements best describes the proportion of protein-coding DNA in the human genome?

Accepted Answer

Only about 2% of the human genome codes for proteins.

Question 2

The Sanger sequencing method relies on the use of dideoxynucleotides. What is the key chemical difference between a dideoxynucleotide (ddNTP) and a normal deoxynucleotide (dNTP)?

Accepted Answer

ddNTPs lack the 3' OH group, preventing chain elongation.

Question 3

A DNA site is considered polymorphic if:

Accepted Answer

It has two or more alleles, each found in more than 1% of the population.

Question 4

Which of the following best describes the process of 'whole genome shotgun sequencing'?

Accepted Answer

Fragmenting the genome, sequencing each fragment, and assembling the sequence using overlapping regions.

Question 5

If a person’s genome differs from the reference genome at \u003e4 million sites out of 3 billion, what is the approximate percentage similarity between two random individuals?

Accepted Answer

About 99.5%

Question 6

Which equation correctly represents the number of base pairs in the human genome?

Accepted Answer

$$3 	imes 10^9$

Question 7

Genome-wide association studies (GWAS) are used to:

Accepted Answer

Statistically correlate SNPs with diseases or traits in large populations.

Question 8

Which of the following is the most common type of DNA variation between human genomes?

Accepted Answer

Single nucleotide polymorphisms (SNPs)

Question 9

A SNP chip is used in genetic testing. What is the primary function of the probes on a SNP chip?

Accepted Answer

To detect specific alleles at SNP sites by hybridization.

Question 10

Which of the following best explains why the Sanger sequencing method produces DNA fragments of varying lengths?

Accepted Answer

DNA polymerase randomly incorporates dideoxynucleotides, terminating synthesis at different positions.

Question 11

Which of the following is NOT a potential use of personal genetic information?

Accepted Answer

Directly altering a person’s genome to cure all diseases

Question 12

Which of the following statements about human genetic variation is TRUE?

Accepted Answer

DNA differences may have no effect, but some can affect gene expression or protein function.

Question 13

Which of the following best describes a polygenic risk score?

Accepted Answer

A score based on the combination of multiple genetic variants, each contributing to disease risk.

Question 14

Which of the following is a real-world example of pharmacogenomics?

Accepted Answer

Identifying SNPs that correlate with response to codeine due to CYP2D6 gene variants.

Question 15

Which of the following statements about the cost of genome sequencing is correct?

Accepted Answer

The cost of sequencing a personal genome has decreased from $3 billion to hundreds of dollars.

Question 16

Which of the following best describes the role of bioinformatics in genome analysis?

Accepted Answer

Bioinformatics uses computer algorithms to identify genes and predict their functions.

Question 17

Which of the following is a correct statement about the similarity between human and chimpanzee genomes?

Accepted Answer

Humans and chimpanzees share about 96% of their DNA.

Question 18

Which of the following is a multi-step process used in preimplantation genetic diagnosis?

Accepted Answer

Embryos are created in vitro, a single cell is removed and analyzed for genetic variants, and only embryos with desired variants are implanted.

Question 19

Which formula best represents the calculation for the percentage of DNA similarity between two individuals if they differ at 1 out of every 200 base pairs?

Accepted Answer

$$\frac{199}{200} 	imes 100\%$$

The Human Genome and Human Genetic Variation: Structure, Sequencing, and Implications

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