Research Project Paper Example | Topics and Well Written Essays - 1500 words - 1

Project - Research Paper ExampleEven though both sexes carry the mutation, the females rarely show up the signs of the disease.The symptoms may be visible in early infancy and appear in male children before the age of 6. Laboratory testing can try the children who carry the active mutation at birth (Dalkilic & Kunkel, 2003). At first, progressive proximal muscle weakness of the pelvis and legs that are associated with a loss in muscle mass. Eventually, this weakness spreads to the neck, arms and other areas. The early signs consist of enlargement of the deltoid and calf muscle, difficulties in standing without help, and low endurance. As the condition progresses, in that respect is wasting of the muscle tissue. By the age of 12, most patients are usually dependent on the wheel chair. Symptoms that occur in the later stage embroil abnormal development of the bone that leads to deformities of the skeleton. As a result of muscle deteroriation, there is occurrence of the loss of move ment, in the long run it leads to paralysis. The average living expectancy for the DMD patients is about 25 years.The diagnoses of the disease include DNA testing, muscle biopsy, and prenatal tests. First, the muscle-specific isoform of the dysrtophin constituent is made up of 79 exons. DNA tests and analysis construe the particular type of mutation of the exon (s) that is affected. Secondly, muscle biopsy entails extraction of a small sample of muscle tissue. A dye is then applied to set off the presence of the dystrophin. Lastly, prenatal tests establish if the unborn child has the most common mutations. The X-linked recessive gene carries the DMD. Males have one X chromosome implying that one copy of the mutated gene will lead to DMD. The mutation is transferred by the mother since fathers cannot pass the X-linked traits to their sons. When the mother is a carrier, one of her X chromosomes has a DMD mutation. In that respect, there is 50 % incur that the