Of the sequencing platforms covered in class, Illumina sequencing has the _____ read length and the ______ throughput.

Gene families:

Missense mutations can result in a significant change to the size and shape of the protein when:

Amy’s sister suffers from Bloom Syndrome, an autosomal recessive Mendelian disorder. Amy and her husband are considering having children and they want to know if they are carriers for Bloom Syndrome. Which of the following provides this information?

Tuberous sclerosis is a rare disease that causes non-malignant tumors to grow in the brain and in other vital organs. Mutations in either the HMRT gene on chromosome 9 or the TBRN gene on chromosome 16 can cause tuberous sclerosis. This disease is an example of:

How does RNAi work?

During prophase I:

If you start with one target template, how many copies of the target region are produced after five PCR cycles?

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?