Abstract

Neurofibromatosis type 1 (NF1) is the most common single gene disorder among the diseases affecting the human nervo-us system. İt is autosomal dominantly inherited. İt is characterised by cafe au lait spots, neurofibromas and Lisch nodules. The prevatence of neurofibrosarcoma has been raised 9.000 times, leukemia 71 times, ONS tumors 46 times in these patients. NF1 gene is located in 17q11.2 region and it has 360 kb of tongevity. To date, 246 mutations have been identified in the gene by the 'International concortium. There are many unidentified mutations since the gene is considerably iarge. in this study, it is aimed at performing the DNA sequencing of 3 regions (exon 27a, exon 37, exon 4b of NF1 gene) vvhich contain comparativeiy larger number of mutations in NF1 gene in the Turkish society (Aegean region). Three exons (exon 27a, exon 37, exon 4b of NF1 gene) from the DNA of 16 NF1 patients vvere amplified by polymerase Chain reaction (PCR) and DNA sequencing vvas performed by ABI 310. No mutations vvere detected in related exons of 16 Turkish NF1 patients. İt is conctuded that the 16 Turkish NF1 patients did not have or very scarcely had the mutations, vvhich vvere observed in exon 27a, exon 37, exon 4b in other societies.