Sandhoff disease is characterized by failure to thrive and progressive deterioration of the nervous system and profound brain damage. Individuals with this disease are missing activity of a key enzyme. Without the enzyme, toxins accumulate and cause cell death and organ damage. Given this information, which is the most plausible genetic mechanism and impact on the protein?

Stacey’s father has Late Onset Alzheimer’s Disease (AD), which is due to a number of different genetic and environmental factors, including an ApoE4 variant that dramatically increases the odds of developing AD. Which test is appropriate for Stacey?

Aneuploidy can occur when:

A researcher is using sequencing to detect CNVs in a sample genome versus a reference genome. The sample genome has been cut into 2000 bp sized fragments. The ends of one fragment align to positions 8000 bp apart on the reference genome. What can the researcher conclude:

In humans, how many autosomes does a mature sperm cell have?

What is the difference between genome editing and gene silencing?

Which of the following is a step in using bacteria to produce a large amount of a human protein as a drug, such as insulin?

McArdle Disease is a form of anemia that can be treated with regular iron infusions. The disorder is caused by a mutation in a gene, NX2, that results in a a mis-folding of a cell surface protein, which affects the body’s ability to transport iron. Individuals with this disorder are resistant to a virus that uses the same cell surface protein to enter cells. This scenario illustrates:

DNA acquires more mutations in:

Which of the following situations would NOT affect gene dosage?