Duchenne Muscular Dystrophy

With humans, there are variants and mishaps within genes. These variations often, if not always, negatively impact lives due to the shocking alterations within the genome. Genetic disorders can be placed into three categories: multifactorial inherited, monogenic, and chromosomal. Monogenic disorders alter a single gene within a person, multifactorial inheriting causes variations within multiple genes while worsening with the effects of the environment, and chromosomal defects are caused by either a surplus or lack of genes. Although not common, Duchenne Muscular Dystrophy is a monogenic degenerative genetic disorder that causes the depletion of muscle in a person, usually male. This is a serious disorder that causes rapidly declining health …show more content…
The Duchenne gene is one of the largest in the human genome, and its major protein, dystrophin, has multiple purposes. Dystrophin links the cytoskeleton to the matrix and sends directions throughout the nerves and muscles, allowing for proper operation and strength. This protein is essential to be able to keep equilibrium with the deliverance of neurotransmitters. If dystrophin is missing or acting improperly, quicker damage is placed on the body. Duchenne Muscular Dystrophy occurs when the the DMD gene is mutated on the XP21 chromosome, then inherited and expressed in a child. Substitution, insertion, deletion, and frameshift are all varying ways to form mutations, but only substitution accurately describes Duchenne Muscular Dystrophy because it replaces part of the gene with a defective DNA base. As the gene is inherited from one generation to the next, it continues in a recessive X-linked …show more content…
To start, since the gene for this disease is recessive, traits and characteristics most often do not show up in an individual. Duchenne muscular dystrophy customarily occurs in a family where there was no previous cases of the disorder. The gene can be passed to children if it is x-linked recessive; two recessive x’s are required for a female to show the disorder and one x is required for males. If the genetic order is passed to children, a male would be more likely to obtain and express the disorder because only one recessive x is needed from the mother to present and show symptoms. There is a 50% chance a male will inherit the disease because only 2 options are available; the x chromosome is normal, or it has the gene for muscular dystrophy. On the other hand, a female only has about a 25% chance of expressing duchenne muscular dystrophy. A female has two x’s, which means they would need two recessive x’s with the mutated gene. A female can be a carrier of the disease without showing symptoms; one x can carry the altered DMD gene while the other is completely

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