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6. True or false: X-linked dominant characteristics are most common in women?

  • Pass
  • Bob
  • True
  • False

7. Which of the following is the most accurate definition for a locus (in relation to genetics)?

  • The point at which the branch of a Y chromosome attaches to the branch of another Y chromosome
  • The location of the Trisomy 21 mutation
  • The unique chromosomal location defining the position of a gene or DNA
  • The place at which DNA Polymerase attaches to the start codon

8. Which of the following is an example of an autosomal dominant disease?

  • Malignant Hyperpyrexia
  • Agammaglobulinaemia (Bruton type)
  • Hunter Syndrome
  • Glycogen Storage Disease (type I)

9. Which of the following is an example of an X-linked disease?

  • Phenylketonuria
  • Duchenne Muscular Dystrophy
  • Familial Adenomatous Polyposis
  • Cystic fibrosis

10. Which of the following is an example of an X-linked disease?

  • Polycystic Kidney Disease
  • Neurofibromatosis (type I)
  • Haemophilia B
  • Neurofibromatosis (type II)

11. Which of the following is an example of an autosomal recessive disease?

  • Phenylketonuria
  • Duchenne Muscular Dystrophy
  • Von Hippel-Lindau Disease
  • Myotonic Dystrophy

12. What is an autosomal gene?

  • A gene found only on the Y chromosome
  • A gene with two copies, one on each chromosome
  • A gene found on only the X chromosome
  • A recessive gene

13. What is a 'de novo' mutation?

  • An alteration in a gene that is present for the first time in the offspring as a result of a mutation
  • An autosomal recessive mutation that creates new offspring
  • An X-linked mutation that causes stunted growth
  • A Y-linked mutation that causes stunted growth

14. If a mutation is 100% penetrant, what does this mean?

  • None of those with the mutation will be able to pass it on to others
  • If you possess the mutation, you won't demonstrate the resulting phenotype (e.g. disease)
  • If you possess the mutation, you will demonstrate the resulting phenotype (e.g. disease)
  • All of those with the mutation will be able to pass it on to others

15. If a child is affected by a genetic disease, but both the parents are not, what is the most likely mode of inheritance?

  • Autosomal Recessive
  • Y-linked
  • Autosomal Dominant
  • X-linked

16. True or false: Y-linked conditions will affect all sons from an affected father?

  • Pass
  • True
  • False
  • Mary

17. Which of the following set of symptoms are a typical manifestation of Marfans Syndrome?

  • Continous eyebrows, short nose & small hands
  • Aortic dilatation, lens dislocation & long slender limbs
  • Osteogenesis Imperfecta, multiple fractures & deformed bones
  • Joint strength, limited range of movement & bent-over posture

18. Which of the following is the most accurate definition for homozygous?

  • Having two or more genetically different cell lines derived from a single zygote
  • Having two of the same alleles at a locus
  • Having two different alleles at a locus
  • Having only one copy of a gene or DNA sequence in a diploid cell

19. Approximately how many recessive genetic diseases does the average person carry an allele for?

  • 10-20
  • 1-5
  • 20-30
  • 5-10

20. Which of the following is an example of an autosomal recessive disease?

  • Cystic Fibrosis
  • Kallmann Syndrome
  • Hereditary Spherocytosis
  • Facioscapulohumeral Muscular Dystrophy