1. What cause Genetic Disorders?
2. How can single-gene disorders occur?
3. What is a Spontaneous Mutation?
4. List 4 single-gene disorders and what effect they can have on someone.
5. What are Large Scale Mutations?
6. Explain Nondisjunction.
7. Can large sections of chromosomes be lost/deleted? Is it harmful?
8. What causes Down Syndrome? Describe effects of this issue.
9. Explain Williams disorder.
10. What is Klinefelter syndrome, explain.
1. Genetic disorders are caused by changes or mutations in the DNA sequence of an individual's genes. These mutations can be inherited from parents or can occur spontaneously during the formation of reproductive cells (gametes) or early stages of fetal development.
2. Single-gene disorders occur when a mutation affects a single gene's function. These mutations can be inherited from parents who carry the mutated gene or can arise spontaneously due to random genetic changes.
3. A spontaneous mutation is a genetic change that occurs randomly and is not inherited from either parent. It can occur during DNA replication, cell division, or due to environmental factors like radiation or chemicals.
4. Four examples of single-gene disorders and their effects are:
- Cystic fibrosis: Affects the respiratory and digestive systems, causing thick mucus and leading to breathing difficulties, frequent lung infections, and digestive problems.
- Huntington's disease: This progressive brain disorder leads to the deterioration of muscle coordination, cognitive decline, and psychiatric symptoms.
- Sickle cell disease: Alters the structure of red blood cells, causing them to become deformed and leading to anemia, pain crises, and organ damage.
- Duchenne muscular dystrophy: Affects muscle strength and function, leading to progressive muscle weakness, difficulty walking, and respiratory problems.
5. Large-scale mutations refer to alterations in the structure or number of chromosomes. These changes can involve the deletion or duplication of large sections of DNA or the loss or gain of whole chromosomes.
6. Nondisjunction is a genetic error that occurs during cell division, specifically in the separation of chromosomes. It is characterized by the failure of chromosomes to separate properly, resulting in an abnormal distribution of chromosomes in daughter cells. Nondisjunction can lead to conditions such as Down syndrome.
7. Yes, large sections of chromosomes can be lost or deleted through chromosomal deletions. This can occur due to errors during DNA replication or breaks in the DNA molecule. The loss of genetic material can lead to significant genetic disorders or health issues depending on the specific genes affected.
8. Down syndrome is caused by the presence of an extra copy of chromosome 21. This genetic condition affects physical and cognitive development. Common physical features include almond-shaped eyes, a flattened facial profile, and a smaller stature. Individuals with Down syndrome may also have intellectual disabilities, delayed speech, and a higher risk of certain medical conditions.
9. Williams syndrome is a genetic disorder characterized by the deletion of a small piece of genetic material from chromosome 7. It results in various physical and cognitive symptoms, including distinctive facial features, cardiovascular problems, developmental delays, and a characteristic sociable personality with strong language skills but limited spatial abilities.
10. Klinefelter syndrome is a genetic disorder in males caused by the presence of an additional X chromosome, resulting in a total of 47 chromosomes (XXY) instead of the usual 46 (XY). This condition is associated with varying degrees of infertility, tall stature, hormonal imbalances, developmental delays, and sometimes learning difficulties.