Introduction to Medical Inheritance: Patterns in Families - BM5 RCR1

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1. What is a 'de novo' mutation?

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

2. In most cases, an individual born with an autosomal recessive disease has parents who are both asymptomatic obligate carriers. If this is the case, what is the risk of a subsequent child having the same condition?

  • 50%
  • 75%
  • 25%
  • 100%

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

  • Having only one copy of a gene or DNA sequence in a diploid cell
  • 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

4. Which of the following is the most accurate definition for heterozygous?

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

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

  • True
  • Mary
  • False
  • Pass

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