Single gene disorders in urdu/hindi | Autosomal single gene disorders | Genetics |BS Zoology

In this video we discussed about autosomal single gene disorders. When a certain gene is known to cause a disease, we refer to it as a single gene disorder or a Mendelian disorder. OR A genetic disorder in which only one gene are affected is called single gene disorder. • For example, you may have heard of cystic fibrosis, sickle cell disease, Fragile X syndrome, muscular dystrophy, or Huntington disease. These are all examples of single gene disorders. 3. CONT… • Autosomal dominant means that a person only needs one copy of the changed gene (genetic difference) in order to have the disorder. Usually, the changed gene is inherited from a parent who also has the disorder and every generation in the family may have members with the disorder. • Autosomal recessive means that it is necessary to have two copies of the changed gene to have the disorder. Each parent contributes one changed copy of the gene to the child who has the disorder. 4. SICKLE CELL ANEMIA • a severe hereditary form of anemia in which a mutated form of hemoglobin distorts the red blood cells into a crescent shape at low oxygen levels. • Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. • People with this disorder have atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape. 5. 6. 17. (5) MUSCULAR DYSTROPHY • Muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass. In muscular dystrophy, abnormal genes (mutations) interfere with the production of proteins needed to form healthy muscle. • There are many different kinds of muscular dystrophy. Symptoms of the most common variety begin in childhood, primarily in boys. Other types don't surface until adulthood. • Some people who have muscular dystrophy will eventually lose the ability to walk. Some may have trouble breathing or swallowing. • There is no cure for muscular dystrophy. But medications and therapy can help manage symptoms and slow the course of the disease Hashtag #mdcat2024 #biology #inheritance #chromosome #zoology #genetics