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Lab 4: Duchenne Muscular Dystrophy

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Questions and Answers

What is the name of the protein that is lacking in Duchenne muscular dystrophy?

Dystrophin (correct)

Hassan

Duchenne

Rasha

Why are Duchenne muscular dystrophy and Becker muscular dystrophy X-linked recessive disorders?

Because the gene is on a mitochondrial chromosome

Because the gene is on the Y chromosome

Because the gene is on a non-sex chromosome

Because the gene is on the X chromosome (correct)

At what age does Duchenne muscular dystrophy typically start showing symptoms?

In adulthood, around age 20

In infancy

In late childhood, around age 10

In early childhood, usually between ages 2 and 3 (correct)

What percentage of patients with DMD or BMD have a deletion of one or more exons?

60% Signup and view all the answers

How many exons can be amplified simultaneously using multiplex PCR?

9 Signup and view all the answers

What is the purpose of agarose gel electrophoresis in the diagnosis of DMD/BMD?

To identify deletions in DNA Signup and view all the answers

What is the initial temperature set for the thermal cycler?

95°C Signup and view all the answers

How many cycles are performed in the PCR reaction?

25 cycles Signup and view all the answers

What is the purpose of the negative control in the PCR reaction?

To check for contamination Signup and view all the answers

What is the concentration of ethidium bromide in the TBE running buffer?

0.2 μg/mL Signup and view all the answers

What is the purpose of the final extension period in the PCR reaction?

To allow the polymerase to fully extend the DNA Signup and view all the answers

How long does the electrophoresis take to complete?

2 hours Signup and view all the answers