Final answer:
Achondroplasia, antithrombin deficiency, ADPKD, and BRCA1 and BRCA2 mutations are diseases linked to specific genetic mutations. Splicing errors from mutations can lead to cancer and other diseases. Cystic fibrosis and sickle cell anemia are examples of genetic disorders caused by single gene mutations.
Step-by-step explanation:
Diseases linked to specific mutations can have profound impacts on individuals. For instance:
- Achondroplasia is a condition related to a certain mutation that affects bone growth and is characteristic of dwarfism.
- Antithrombin deficiency is associated with an increased risk of developing blood clots due to mutations affecting the antithrombin protein.
- Autosomal dominant polycystic kidney disease, or ADPKD, is a genetic disorder that can cause numerous cysts to grow in the kidneys. It is linked to mutations in the PKD1 or PKD2 genes.
- Mutations in BRCA1 and BRCA2 genes are known to significantly increase the risk of breast and ovarian cancer in women and have also been linked to other types of cancer.
Mutations that lead to splicing errors can contribute to various forms of cancer and other diseases. Splicing errors can result from mutations at the canonical splicing sites, leading to exon skipping, intron retention, or the use of cryptic splice sites. These errors change the way genes are read and can lead to the production of abnormal proteins, which may disrupt normal cellular function.
Genetic disorders caused by mutations include conditions like cystic fibrosis, which is linked to mutations that cause the body to produce a thick, sticky mucus that clogs the lungs. Sickle cell anemia is another example, where a single amino acid change leads to red blood cells assuming a sickle shape.