Examples of Autosomal Dominant Human Genetic Disorders

📚 Quick Study Guide

• 🧬 Autosomal dominant disorders occur when only one copy of a mutated gene is needed to cause the disorder.
• 👪 Affected individuals usually have at least one affected parent.
• 📈 Each child of an affected parent has a 50% chance of inheriting the mutated gene and being affected.
• 📝 Examples include Huntington's disease, Marfan syndrome, and achondroplasia.
• 🔬 Genetic testing can often confirm the diagnosis.

🧪 Practice Quiz

1. Which of the following statements is true regarding autosomal dominant disorders?

   1. Only females can be affected.
   2. Both copies of the gene must be mutated to cause the disorder.
   3. One copy of the gene must be mutated to cause the disorder.
   4. The disorder skips generations.

2. If one parent has an autosomal dominant disorder and the other does not, what is the probability that their child will inherit the disorder?

   1. 0%
   2. 25%
   3. 50%
   4. 100%

3. Which of the following is an example of an autosomal dominant disorder?

   1. Cystic fibrosis
   2. Sickle cell anemia
   3. Huntington's disease
   4. Tay-Sachs disease

4. What is the inheritance pattern of an autosomal dominant disorder?

   1. It typically skips generations.
   2. It affects males more often than females.
   3. It requires both parents to be carriers.
   4. It appears in every generation.

5. Achondroplasia, a form of dwarfism, is an example of which type of genetic disorder?

   1. Autosomal recessive
   2. X-linked recessive
   3. Autosomal dominant
   4. Y-linked

6. Marfan syndrome affects connective tissue. What type of inheritance pattern does it follow?

   1. Autosomal recessive
   2. X-linked dominant
   3. Autosomal dominant
   4. X-linked recessive

7. Which of the following is NOT a characteristic of autosomal dominant inheritance?

   1. Affected individuals have at least one affected parent.
   2. Unaffected parents cannot transmit the trait.
   3. Males and females are equally affected.
   4. The trait often skips generations.