Many genetic disorders are caused by mutations in one or more genes. These mutations can lead to a variety of health problems, depending on the gene affected and the type of mutation.
Here are some examples of genetic disorders caused by mutations:
- Cystic Fibrosis: This is a disorder that affects the lungs and digestive system. It is caused by a mutation in the CFTR gene.
- Sickle Cell Disease: This blood disorder is caused by a mutation in the HBB gene, affecting hemoglobin.
- Tay-Sachs Disease: This rare, inherited disorder progressively destroys nerve cells (neurons) in the brain and spinal cord. It's caused by mutations in the HEXA gene.
- Huntington's Disease: This is a progressive brain disorder caused by a single defective gene on chromosome 4.
- Phenylketonuria (PKU): This is an inherited error of metabolism caused by mutations in the PAH gene, leading to a buildup of phenylalanine in the body.
It's important to note that while chromosomal abnormalities (e.g., Down Syndrome) are genetic disorders, they are caused by an abnormality in chromosome number or structure, rather than mutations within a specific gene.
