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Neurofibromatosis Essay

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Neurofibromatosis

Neurofibromatosis is a disorder affecting the chromosomes of the human body. It is a hereditary disorder affecting the nervous system. The term neurofibromatosis actually refers to two different genetic diseases. The most common type is NF 1, and the less common type is NF 2. Both disorders are transmitted in an autosomal dominant fashion. An autosomal dominant disease is a disorder caused by the presence of a single autosomal dominant gene; an abnormal factor located on any chromosome other than the sex chromosome. They are both characterized by occurrences in multiple neurofibromas. The main symptom of these disorders is tumors that form on the ends of nerves throughout the body. NF 1 is most commonly …show more content…

There are fewer symptoms for this type than NF1. There are fewer brown spots on the body. This disorder is noted for the frequency of tumors found on the spinal cord and brain. These tumors more often than not cause loss of hearing or a ringing sounds to occur in the ears. The probability of being effected by neurofibromatosis is very surprising. It is actually one of the most common genetic disorders in the United States. The probability of being born with NF1 is 1 in 4000. The probability of being born with NF2 is 1 in 50000. This disorder effects all ethnic races and sexes. Because NF is an autosomal dominant genetic condition you can't get it from other people. Statistics show that only about 50% of those affected with NF have family history of NF. The only way to get NF is from your parents. The parents can only give NF to their offspring if they are also plagued by this disorder. In the past few years there have been huge advancements in treatment for neurofibromatosis. They still haven't found a cure or effective treatment for this disorder. They have deciphered that NF1 effects chromosome 17 and that Nf2 effects chromosome 22. The problem with finding a cure for this disorder is that about ½ of all cases occur due to new mutations of the genes. In 1990 scientists were able to clone the gene of NF1 and then produce its protein, neurofibromin. Once again in 1993 they were able to clone the gene of NF2 and create

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