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6. Adenoleukodystrophy mainly affects which part of the body?
- Lymphatic system
- Thymus
- White matter
- White blood cells
7. ‘Gowers sign’ is the typical clinical indication of which disease?
- Epilepsy
- Gaucher’s disease
- Muscular dystrophy
- Parkinson’s
8. ‘Gene silencing’ is a new technique being developed as a potential therapeutic to which disease?
- Peripheral nerve degeneration
- Huntington’s disease
- Adrenoleukodystrophy
- Idiopathic Parkinson’s disease
9. Gauncher Mutation is a risk factor of Parkinson’s disease
10. Non Poly-Q disease also involves repeats of CAG nucleotides
- False - They involve any other triplet except CAG
- True - They give rise to similar disorders
11. Which diseases can mimic the clinical presentation found in Idiopathic Parkinson’s?
- Multiple System Atrophy & Progressive Supranuclear Gaze Palsy
- Epilepsy & Bell’s Palsy
- Gauncher’s Disease & Myotonic Dystrophy
- Hypercholesterolaemia & Myositis Ossificans & Creutzfeldt
12. Trinucleotide repeat disorders are usually formed during mitosis
13. What diseases are a result of CAG nucleotide repeat expansions?
- Huntington’s disease
- Fragile-X syndrome
- Friedriech’s ataxia
14. What best describes ‘Anticipation’
- Single point-mutation error that only shows phenotype in 50% of individuals
- Expansion of the trinucleotide region causing severe phenotype in subsequent generations
- Deletion of the trinucleotide region, presenting phenotype only in the previous generation
- Duplication of a specific triplet nucleotide that causes late onset in adult life
15. Common manifestations of mitochondrial disease
- Myasthenia gravis, Adrenoleukodystrophy, Alkalosis
- Myopathy, Encephalopathy, Diabetes
- Mucopolysaccharidoses, Anti-trypsin deficiency, Phenylketonuria
16. ‘Premature degeneration’ is associated with which of the following?
- Toxic gain of function
- Total dysfunction
- Insufficient gain of function
- Intermittent function
17. What is the typical mode of inheritance of Poly-Q disease?
- Mitochondrial
- Autosomal Dominant
- X-Linked Recessive
- Autosomal Recessive
18. How does ‘gene silencing’ work?
- Sense polynucleotides in reverse sequences to DNA/RNA
- Anti-sense oligonucleotides in reverse sequences to DNA/RNA
- Sense oligonucleotides in reverse sequences to DNA/RNA
- Anti-sense polynucleotides in reverse sequences to DNA/RNA
19. Huntington’s disease is not associated with haploinsufficiency, why?
- It only occurs in Fragile-X Syndrome
- Huntington’s is a toxic gain of function
- It is non-compatible with life
- Huntington’s is a diploinsufficiency
20. Why are some genetic disorders not considered to be ‘congenital’
- Gene products involved in functions that are not apparent at birth
- Most congenital disorders result in sporadic abortion
- Mutations have not occurred in utero, but during development
- Mutations have occurred as a result of environmental factors
