Genomics and Human Medicine Practice Problems

What is the threshold for the repetitive CAG sequence beyond which an individual may develop Huntington disease?

What causes Huntington disease?

Which of the following is the first human genetic disease for which newborn screening was approved for widespread use?

In CRISPR-Cas technology, what do we call the RNA that has been engineered to complement the target DNA sequence?

Suppose you want to engineer a mouse model to study a particular human disease. You want to create a mutation in the mouse genome using CRISPR-Cas technology. What endonuclease enzyme is used in this technique?

In Drosophila melanogaster, a recessive mutation causes white eyes instead of the typical red eyes. The gene responsible for eye color is located on the X chromosome. Which of the following statements about the influence of genome size in locating the gene is true?

Physicians must ensure that patients clearly understand what participation in a GWAS entails and that they have the right to withdraw from the study at any time. This principle in medical ethics is called:

Identifying individuals who carry a mutation for an autosomal recessive genetic disorder is important even if they are asymptomatic. If both parents are carriers, what is their chance of having a child that has a mutated phenotype?

Genome-wide association studies (GWAS) aim to determine a DNA marker to a quantitative trait loci (QTL) that influences a particular disease. It is different from QTL because it can scan the whole genome.
Which of the following diseases can be effectively investigated by GWAS?

Which method involves isolating different cellular compartments from yeast cells to analyze the presence of the protein of interest in each fraction?

What is the purpose of a repair template in CRISPR-Cas9 genome editing for large deletions?

Sickle Cell Disease (SCD) is a disorder that affects the hemoglobin in red blood cells. It causes the hemoglobin to form a sickle or crescent shape, which can cause blockages in small blood vessels leading to reduced blood and oxygen flow to tissues and organs.
Which of the following statements is true about SCD?

Cystic Fibrosis (CF) is a genetic disorder that affects the lungs, pancreas, and other organs. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
The duration of the treatment may vary depending on:

Untreated PKU can lead to a buildup of phenylalanine in the blood and brain. Which of the following states the consequence of PKU if left untreated?

Phenylketonuria (PKU) is a hereditary condition that affects the way the body processes an amino acid called phenylalanine. PKU is caused by mutations in the gene that encodes phenylalanine hydroxylase, an enzyme that converts phenylalanine to tyrosine.
Which of the following is advisable for individuals with PKU?

Phenylketonuria (PKU) is an autosomal recessive disorder caused by mutations in the PAH gene, which encodes phenylalanine hydroxylase. This enzyme is responsible for the conversion of the amino acid phenylalanine to:

What is the functional consequence of replacing the Cas9 endonuclease domain with a transcriptional activator domain in the CRISPR-Cas9 complex?

Which of the following gene editing technologies does not involve creating double-stranded DNA breaks?

What would suggest the presence of the gene of interest on the genomic clone in Southern blot analysis?

What is the first step in creating a transgenic plant producing vitamin E in its seeds?

How can "gain-of-function" technology directly help address food security amidst climate change problems?

The _______ is a method used to create transgenic animals. This method involves the collection of fertilized eggs at the zygote stage.

Which of the following technologies can allow humans to directly edit and modify genes?

Which of the following options correctly describes the main goals of the Human Genome Project?

A rough estimate of the number of genes in the human genome is 20,000; these genes make up ____of the genome as a whole.

Which of the following is a primary variation in the human genome that may be used to identify individuals?

Which of the following describes a disadvantage of personal genome projects (PGP) in comparison to the human genome project (HGP)?

Which of the following options best describes the difference between whole-genome sequencing (WGS) and whole-exome sequencing (WES)?

Which of the following best describes the goal of the Genome 10K project?

___________ is a molecular DNA and RNA analysis technique that separates DNA fragments and hybridizes them using labeled probes.

___________ are organisms born from pseudopregnant mice that have both normal and knockout stem cells.

In knockout experiments, how do scientists ensure that the targeting vector has been properly introduced in the genome?

Which of the following statements about the transgenic animal is true?

Which of the following is the main purpose of doing a gene "knockout"?

Mitochondrial replacement therapy (MRT) is the process of replacing the mutated mitochondria with a normal nucleus. MRT is also known as:

The use of genetically modified organisms in the production of medicines is known as: