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Question 16. Post-translational modification includes:

(a) The addition of a signal peptide to proteins bound for export.
True False

(b) Carboxylation of procollagen to form collagen.
True False

(c) Processes that take place in the cytoplasm.
True False

(d) Cleavage of proinsulin to produce insulin.
True False

(e) Some processes that occur as the protein is being translated.
True False

Question 17. Concerning bacteria:

(a) They contain a nuclear membrane.
True False

(b) Cell wall synthesis can be targeted by sulphonamides.
True False

(c) Penicillin can be used in the treatment of meningococcal meningitis.
True False

(d) They have a sexual form of reproduction called conjugation.
True False

(e) Transduction can only occur in the absence of viruses.
True False

Question 18. Bayes' theorem:

(a) Can be used to calculate allele frequencies in a population.
True False

(b) Uses calculations based on mendelian genetics.
True False

(c) Can be used to assess a couple's risk of having an affected child.
True False

(d) Predicts absolute risk.
True False

(e) Can be applied to calculate risk using existing information.
True False

Question 19. In genetic counselling:

(a) Paternity testing can be accurately carried out using DNA fingerprinting.
True False

(b) Consanguinity can cause an increased frequency of autosomal recessive conditions.
True False

(c) An accurate diagnosis is not always necessary.
True False

(d) In the UK it is legal to marry your cousin.
True False

(e) An accurate family history is of paramount importance.
True False

Question 20. Concerning the Hardy-Weinberg equation:

(a) It applies only if a population is in equilibrium.
True False

(b) It can be used to calculate allele frequencies in a population.
True False

(c) For an autosomal recessive condition, incidence is calculated as q2.
True False

(d) For an autosomal dominant condition, disease frequency is approximately equal to frequency of homozygotes.
True False

(e) It will not apply if there is a mass migration.
True False

Question 21. Concerning neural tube defects:

(a) They are examples of congenital deformations.
True False

(b) Defects arise from incomplete closure of the neural tube.
True False

(c) Holoprosencephaly is associated with trisomy 17.
True False

(d) A myelomeningocoele is a type of spina bifida.
True False

(e) Cranium bifidum is never compatible with life.
True False

Question 22. Ataxia telangiectasia:

(a) Is caused by a defect in excision repair.
True False

(b) Is caused by a defect in mismatch repair.
True False

(c) Can be diagnosed by telangiectasia in the eyes.
True False

(d) Carries a very high risk of colon cancer.
True False

(e) Is associated with myeloproliferative disease.
True False

Question 23. Features of fragile X syndrome include:

(a) Usually male.
True False

(b) Big ears.
True False

(c) Usually severe learning difficulties.
True False

(d) Father to son transmission.
True False

(e) Cytosine, guanine, guanine (CGG) triplet repeat expansion.
True False

Question 24. Concerning congenital malformations:

(a) Most are caused by an underlying chromosomal abnormality.
True False

(b) They are caused by an error of development.
True False

(c) 5% of congenital heart disease is due to a chromosomal defect.
True False

(d) Macrocephaly and microcephaly refer to brain size.
True False

(e) Congenital renal agenesis results in Williams syndrome.
True False

Question 25. Congenital rubella:

(a) Is most likely to occur if the mother has a primary infection at 3-4 months of pregnancy.
True False

(b) Causes cataracts.
True False

(c) Causes severe learning difficulties.
True False

(d) Is increasing in incidence.
True False

(e) Is associated with insulin-dependent diabetes mellitus.
True False

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