Once you finish purifying your PCR product (Part B), the Agarose gel should be finished running , meaning you can analyse your PCR reactions.

Under which of the following conditions would you need to stop using your own sample for part C and D, and collect a backup sample from your TA instead? (Select all that apply)

Assume that if not mentioned, the -DNA PCR sample does not show any bands of the expected size. 

The first thing you will do in this lab is run 5 µl of your + DNA and - DNA PCR from week 3 on an agarose gel. The expected size depends on the sample you were allocated and processed in Week 3. To remind yourself, review the email sent to you titled "IMPORTANT: (BMS2042/GNA2042) Week 3 Lab Information" which contains your sample number.

Imagine you were allocated sample 14 in Week 3 (this may or may not be your real sample number).

When you run your + DNA PCR, what size band do you expect to see?

Give you answer as a number in base pairs (bp)

A 12-year-old female is diagnosed with a rare neuromuscular disorder characterized by muscle weakness, lactic acidosis, and exercise intolerance. Her mother and maternal grandmother both have milder symptoms of the same condition. 

Which of the following statements best explains the inheritance pattern and clinical variability observed in this family?

A couple seeks genetic counselling after their first male child is diagnosed with a neurodevelopmental disorder. Genetic testing reveals a deletion on chromosome 15, and both parents carry this deletion but are asymptomatic. Their second male child, who also carries the same deletion, is completely asymptomatic.

What is the most likely explanation for this inheritance pattern?

A healthy couple has a child diagnosed with a severe autosomal dominant skeletal disorder. Genetic testing reveals a pathogenic variant in the FGFR3 gene. Genetic testing of the parent's blood identifies that neither parent carries the variant, and there is no family history of the condition.

The couple is concerned about the risk of recurrence in future pregnancies and asks whether the variant could be inherited again.