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6. True or false: X-linked dominant characteristics are most common in women?
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?
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?
20. Which of the following is an example of an autosomal recessive disease?
- Cystic Fibrosis
- Kallmann Syndrome
- Hereditary Spherocytosis
- Facioscapulohumeral Muscular Dystrophy