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Question 2 Short Answered Questions – (20%) Below is the output from analysis of the dystrophin (DMD) gene in a patient sample by multiplex ligation-dependent probe amplification (MLPA).   2a) What genetic abnormality has been identified in the patient sample? (2 marks) 2b) Why do MLPA probes contain a ‘stuffer’ sequence? (2 marks) 2c) The patient has no family history of muscular dystrophy. A blood sample from the patient’s mother was analysed and did not reveal any abnormality within the DMD gene. Explain the origins of the disease in the patient. (3 marks) 2d) A sample from a second patient revealed no insertions or deletions by MPLA. Explain why a diagnosis of Duchenne muscular dystrophy could not be excluded, and how diagnostic testing would proceed. (3 marks) — ESSAY QUESTION – 80% Explain the pathogenesis of the Duchenne and Becker muscular dystrophies. In your answer, critically evaluate exon skipping as a novel therapeutic approach for treating patients.

Death does not discharge a contract.

Identify the indicated nerve. [BLANK-1] 5 pectoral region.png

Which muscle is protected deep to the subacromial bursa?

Fill in the correct answers: 1. Which muscle is enclosed within the clavipectoral fascia? [BLANK-1] 2. Which vein pierces the clavipectoral fascia? [BLANK-2]

Identify the indicated synovial space. [BLANK-1] 27 elbow and pru.png

Which one of the following represents the CORRECT order of the borders and content of the cubital fossa, starting from medial border → content from MEDIAL to LATERAL → lateral border.

What is the action of palmar interossei muscles on the metacarpophalangeal joints?

Which muscle forms part of the posterior wall of the axilla?

Classify the proximal radio-ulnar joint.