12 Questions
What is the name of the protein that is lacking in Duchenne muscular dystrophy?
Dystrophin
Why are Duchenne muscular dystrophy and Becker muscular dystrophy X-linked recessive disorders?
Because the gene is on the X chromosome
At what age does Duchenne muscular dystrophy typically start showing symptoms?
In early childhood, usually between ages 2 and 3
What percentage of patients with DMD or BMD have a deletion of one or more exons?
60%
How many exons can be amplified simultaneously using multiplex PCR?
9
What is the purpose of agarose gel electrophoresis in the diagnosis of DMD/BMD?
To identify deletions in DNA
What is the initial temperature set for the thermal cycler?
95°C
How many cycles are performed in the PCR reaction?
25 cycles
What is the purpose of the negative control in the PCR reaction?
To check for contamination
What is the concentration of ethidium bromide in the TBE running buffer?
0.2 μg/mL
What is the purpose of the final extension period in the PCR reaction?
To allow the polymerase to fully extend the DNA
How long does the electrophoresis take to complete?
2 hours
This quiz covers the basics of Duchenne muscular dystrophy, a rare genetic muscle disease caused by the lack of dystrophin protein. Learn about its genetic inheritance pattern and how it affects individuals. Test your knowledge of this X-linked recessive disorder.
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