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10.5 Hemoglobinopathies, Bleeding Disorders & Cancer Genetics β Test 2
Q1. Sickle-cell disease is caused by a substitution of glutamic acid by valine at position 6 of the:β Beta-globin chain
Q2. Newborns with sickle-cell disease appear healthy at birth mainly because of the presence of:β Fetal haemoglobin (HbF)
Q3. Reduced or absent synthesis of beta-globin chains results in:β Beta-thalassaemia
Q4. A severe form of alpha-thalassaemia causing death in neonates (hydrops fetalis) is:β Hb Bart hydrops fetalis
Q5. The most common inherited bleeding disorder is:β Von Willebrand disease
Q6. Which inherited bleeding disorder is autosomal dominant (affecting both sexes)?β Von Willebrand disease
Q7. Haemophilia A and haemophilia B are inherited as:β X-linked recessive
Q8. Most hereditary cancer syndromes are inherited in an ___ manner:β Autosomal dominant
Q9. The most commonly mutated gene in human cancers is:β TP53 (p53)
Q10. A likely mechanism by which a proto-oncogene is converted into an oncogene is:β Chromosome translocation (or amplification/point mutation)
Q11. Familial adenomatous polyposis (FAP), which predisposes to colon cancer, is caused by inherited mutation of the:β APC tumour-suppressor gene
Q12. Fanconi anaemia, which features chromosome breakage and a high cancer risk, results from a defect in:β A DNA-repair pathway
Q13. A fusion (chimeric) gene created by a chromosome rearrangement is the cause of:β Chronic myeloid leukaemia (BCR-ABL)
Q14. Achondroplasia, a common form of short-limbed dwarfism, is inherited as:β Autosomal dominant (FGFR3 mutation)
Q15. Consanguinity (mating between close relatives) most increases the risk of:β Autosomal recessive disorders
Q16. Increased risk of Down syndrome on maternal serum screening is indicated by:β Low AFP, low unconjugated estriol and high hCG
Q17. The CF carrier (heterozygote) state is thought to have persisted partly because it may have conferred:β Resistance to certain diarrhoeal diseases
Q18. In Tay-Sachs and Gaucher disease, the accumulated material builds up because of a defect in:β Lysosomal enzymes (storage disorders)
Q19. Why do some female carriers of an X-linked recessive disease (e.g. haemophilia) show mild symptoms?β Skewed (non-random) X-inactivation favouring the mutant X
Q20. Match each condition with its description and select the correct option.β A-ii, B-i, C-iv, D-iii