Introduction to Medical Inheritance: Patterns in Families - BM5 RCR1

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

  • Neurofibromatosis (type II)
  • Polycystic Kidney Disease
  • Haemophilia B
  • Neurofibromatosis (type I)
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Other questions in this quiz

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

  • If you possess the mutation, you will demonstrate the resulting phenotype (e.g. disease)
  • 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)
  • All of those with the mutation will be able to pass it on to others

3. Which of the following is the most accurate definition for mosaic (in relation to genetics)?

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

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

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

5. True or false: male to male transmission never occurs in X-linked recessive conditions?

  • True
  • False
  • Pass
  • George

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