10.2 Triplet Repeats, Channelopathies & Mendelian Disorders — Test 1

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10.2 Triplet Repeats, Channelopathies & Mendelian Disorders — Test 1

Q1. Type II glycogen storage disease (Pompe disease) is caused by a defective:✓ Acid α-1,4-glucosidase (acid maltase)

Q2. Wilson disease is caused by a mutation affecting a:✓ Copper-transporting ATPase (ATP7B)

Q3. Thanatophoric dysplasia results from mutations in which signalling pathway?✓ Receptor tyrosine kinase (FGFR3)

Q4. A loss-of-function mutation in human WNT1 can lead to:✓ Osteogenesis imperfecta / early-onset osteoporosis

Q5. Laron syndrome (autosomal recessive) makes affected individuals resistant to:✓ Growth hormone

Q6. Individuals with Laron syndrome characteristically show:✓ Elevated circulating growth hormone (with low IGF-1)

Q7. Androgen insensitivity syndrome is caused by a mutation in the AR gene located on chromosome:✓ X

Q8. Testicular feminisation (an XY individual with a female phenotype) is caused by:✓ Functional loss of the androgen receptor

Q9. In the autoimmune disease myasthenia gravis, antibodies target:✓ Acetylcholine receptors at the neuromuscular junction

Q10. Trinucleotide (triplet) repeat expansion is the mechanism in:✓ Huntington's disease

Q11. Which disorder is caused by a CAG trinucleotide-repeat expansion?✓ Huntington's disease

Q12. Huntington's disease, a basal-ganglia disorder, is inherited as:✓ Autosomal dominant

Q13. A disorder in which severely affected individuals carry more than 1000 CTG repeats is:✓ Myotonic dystrophy

Q14. Fragile X syndrome is caused by expansion of which repeat?✓ CGG

Q15. Thalassaemia results from the reduced or absent synthesis of:✓ α- and/or β-globin chains of haemoglobin

Q16. In which condition does an HBB mutation cause less β-globin protein to be made (rather than an altered protein)?✓ β-thalassaemia

Q17. Which of the following is NOT a hereditary (genetic) disease?✓ Cretinism (iodine-deficiency type)

Q18. Which set lists only single-gene (Mendelian) disorders?✓ Haemophilia, sickle-cell anaemia, cystic fibrosis

Q19. Which is an autosomal dominant disorder?✓ Huntington's chorea

Q20. Match each disorder with its mutation type and select the correct option.✓ A-iii, B-i, C-ii, D-iv