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Genetics

 

It is described as a Physical Map', which has helped with the draft sequence and already helped identify 100 disease genes.2 .
             A mutation is a change in the genetic material of a cell. DNA mutations are caused through DNA damage from environmental agents such as ultraviolet light (sunshine), nuclear radiation or certain chemicals or/and mistakes that occur when a cell copies its DNA in preparation for cell division.4 If a mutation occurs in a sex cell then it is passed down on the next generation. The Nucleic acid bases ( A,T and G,C) are usually altered. This happens when the DNA strands are separated and copied and the altered bases will pair with an incorrect; for example, A with G instead of A with T. This is a mutation. Environmental agents break the bonds between oxygen and phosphates, which therefore creates the possibility of the mutated gene producing a protein that function differently.
             Marfan Syndrome is put into the category affecting the muscle and bone, also affects the skeleton, lungs, eyes, heart, and blood vessels. The disease affects the connective tissues therefore a person who has Marfan Syndrome is characterized as having unusually long limbs.2 The importance of the connecting tissues support and determine the body's elasticity of the body's organs, bones and ligaments; in this disease, the connecting tissues stretch and weaken.3 .
             The syndrome affects the FBN1 Gene on chromosome number 15. FBN1 carries fibrillin, which is a connective tissue protein. This Syndrome is usually inherited from one of the parents and about 30% of cases occur when the abnormal gene arises in an egg or a sperm of an unaffected parent.3.
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             4.
             In diagnosing Marfan Syndrome, X-rays, slit-lamp eye examination, skeletal examination and complete family history are used. The symptoms mainly occur in the cardiovascular system. When the heart contracts, the valves may go backwards .
             (mitral valve prolapse) and this leads to possible heart failure and breathing irregularities.


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