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 chromosome be lost/deleted? Is it harmful?
8. What causes Downs 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 genes or chromosomes. These changes can be inherited from parents or can occur spontaneously.
2. Single-gene disorders occur when a mutation or change in a single gene is responsible for causing the disorder. This can be inherited from one or both parents who carry the mutated gene.
3. A spontaneous mutation refers to a genetic mutation that occurs randomly during the replication or copying of DNA. These mutations are not inherited from parents and can occur in any person.
4.
- Cystic Fibrosis: It is a single-gene disorder that affects the respiratory and digestive systems. It can lead to frequent lung infections, difficulty breathing, and poor growth.
- Huntington's Disease: It is a neurological disorder that causes the progressive degeneration of brain cells. The symptoms include movement disorders, cognitive decline, and psychiatric disturbances.
- Sickle Cell Anemia: It is a disorder of the red blood cells, where they become crescent-shaped and can cause episodes of pain, fatigue, anemia, and organ damage.
- Hemophilia: It is a bleeding disorder that affects the blood's ability to clot, leading to excessive bleeding and bruising.
5. Large-scale mutations, also known as chromosomal abnormalities, involve changes in the structure or number of chromosomes. Examples include deletions, duplications, translocations, and inversions of chromosome segments.
6. Nondisjunction is a type of chromosomal abnormality that occurs during cell division when chromosomes fail to separate properly. This can result in an abnormal number of chromosomes in the offspring, leading to genetic disorders such as Down syndrome.
7. Yes, large sections of chromosomes can be lost or deleted. This can occur due to errors during DNA replication or exposure to certain mutagens. The loss of essential genes in these large-scale deletions can result in severe genetic disorders or even be lethal.
8. Down syndrome is caused by the presence of an extra copy of chromosome 21, resulting from a nondisjunction event during cell division. Individuals with Down syndrome often have mild to moderate intellectual disabilities, characteristic facial features, and an increased risk of certain health issues such as congenital heart defects and Alzheimer's disease.
9. Williams syndrome is a genetic disorder caused by the deletion of genetic material from chromosome 7. It is characterized by developmental delays, distinctive facial features, cardiovascular problems, and a unique personality profile that includes hyperacusis (sensitivity to specific frequencies of sound) and sociability.
10. Klinefelter syndrome is a genetic disorder that occurs in males when they have an extra X chromosome (XXY) instead of the usual XY pattern. This leads to abnormal development of the testes, resulting in reduced testosterone levels and infertility. Individuals with Klinefelter syndrome may experience subtle cognitive and physical differences, such as tall stature, gynecomastia (enlarged breasts), and difficulties with language and learning.