Neurofibromatosis - Type 1

von Recklinghausens disease shell 1 von Recklinghausens disease lawsuit 1, withal cognise as NF1 is an inherited disease that affects the skin, vision, and the neuroectodermal system. NF1 is a unmingled single- component overturn with a high rate of new diversitys. These mutations are highly diverse and ar found throughout the agent. hardly a(prenominal) genotype-phenotype correlational statisticss are cognise, but complete gene deletions induce to severe disease. (Theos, ). neurofibromatosis affects approximately 1 in 3,500 births worldwide. Type 1 Neurofibromatosis is located on chromosome 17 and Neurofibromatosis Type 2 is located on chromosome 22. NF1 produces a gene called neurofibromin. When the gene is mutated, the mutation takes place on gene 17q11.2. It contains 60 exons that encode a 11-13-kb mRNA transcript. The mutation rate for neurofibromatosis is one of the highest known for human disorders, mainly because of the large surface of the gene, gene c onversions intercede by pseudogenes and the presence of repeated sequences. No clear genotype-phenotype correlation is established, except for patients with the deletion of the entire neurofibromatosis type 1 gene. (Terzi YK, Oguzkan S, Anlar B, Aysun S, Ayter S.

) According to Ingrid Eisenbarths journal Toward a Survey of bodied Mutation of the NF1 gene in favorable Neurofibromas of Patients with Neurofibromatosis Type 1, Neurofibromatosis type 1 is caused by mutations in the NF1 gene. Shortened peptide fragments were detected in an outline of NF1 patients with tumours. These patients were analyzed by PTT (Protein-Truncat ion Test). Scientists searched for NF1 gene ! mutations in neurofibromas with the Protein-Truncation Test (PTT). sevensome tumors from four NF1 patients were include in the screening for somatic mutations. some(prenominal) different trim back peptide fragments were detected in the tumor samples. An overview of the position of premature violate codons derived from the experiment. Some of the common mutations in NF1 include but are not limited to: gene deletions, chromosome...If you want to get a full essay, order it on our website: OrderCustomPaper.com

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