Introduction to Medical Inheritance: Patterns in Families - BM5 RCR1

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

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

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

3. Two parents are heterozygous carriers of an autosomal recessive disease. What is the probability that their first child will have that condition?

  • 25%
  • 100%
  • 50%
  • 75%

4. Which of the following is the most accurate definition for a recessive characteristic?

  • The characteristic only manifests itself in the phenotype when the genotype is heterozygous
  • The characteristic only manifests itself in the genotype when the phenotype is heterozygous
  • The characteristic only manifests itself in the phenotype when the genotype is homozygous for those alleles
  • The characteristic only manifests itself in the genotype when the phenotype is homozygous for those alleles

5. Male to male transmission of a genetic condition is most likely to imply which type of inheritance?

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

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