Autosomal dominant inheritance
In this type of inheritance,One copy of a defective gene from either Mother or father causes disease in offspring or families.
In an autosomal dominant disease, if any offspring receives the abnormal gene from only one parent then offspring would be affected. On the other hand, Either father or mother may have the disease.
In an autosomal dominant disease, An abnormal gene is present on the first to twenty second chromosome or Autosome or nonsex chromosomes on father or mother and transferred to offspring as an autosomal disorder. A parent with an autosomal dominant condition has a fifty percent chance to transmit this disease to their offspring but not all offspring. It means that each offspring having disease does not depend on their sibling having the disease. If offspring do not receive the abnormal gene. This disease will not develop on this offspring. only twenty five percent of people are affected from Marfan syndrome when his/ her parent does not have any gene of Marfan syndrome.
Examples of autosomal dominant disorders
Marfan syndrome is an autosomal dominant disorder that affects connective tissue that support organs and other structures in your body.
People with Marfan syndrome are usually tall and thin with unusually long arms, legs, fingers and toes. Marfan syndrome can be severe. If aorta, a blood vessel that transports the blood from the heart body, is affected. It may be fatal for life.
The signs and symptoms of Marfan syndrome are varied among members of the same family. Some people have mild effects but in some cases these symptoms may be life-threatening. The symptoms of Marfan syndrome include Tall and slender long arms, legs and fingers, A breastbone that becomes long abnormally, Abnormal palate and crowded teeth, Extreme nearsightedness etc. Marfan syndrome affects the gene that produces a protein responsible for the elasticity and strength of connective tissue.
Myotonic dystrophy is another autosomal dominant disease that affects the muscles systems. This disease usually recorded during adulthood between the age Twenty or thirty years. This disease is responsible for the progressive muscle loss and weakness. People with myotonic dystrophy are not able to make muscle relax after the use.
Myotonic dystrophy is caused by mutations in the gene. The disease is inherited in an autosomal dominant manne. Myotonic dystrophy may be diagnosed when a hmedical expert observes signs and symptoms of the disease and may be diagnosed with tests of muscle function and genetic testing. The symptoms of this disease include muscle weakness, stiffness, tightness, and wasting. There are two types of myotonic dystrophy that are represented as type one or type two. The symptoms with myotonic dystrophy of type two are mild than type one. The symptoms of type one are appeared in legs, hands, neck, and face whereas symptoms of the type two are seen in neck, shoulders, elbows, and hips.
Some time the myotonic dystrophy may be congenital and present in child since birth. Symptoms of congenital myotonic dystrophy include weakness of all muscles, breathing problems, reatard development etc.
is a disorder in which LDL or bad cholesterol level is increased .The condition may appear since birth and can cause heart attacks at an early age. It It is an autosomal dominant genetic disorder. It is caused due to mutation on chromosome 19.
During this disorder, the body is not able to remove low density lipoprotein or bad cholesterol from the blood. This results in a high level of LDL in the blood. As a result the arteries become narrower at an early age. The condition is passed through families in an autosomal dominant manner.