mutation analysis of the NF1 gene in Iranian patients with neurofibromatosis type 1

Neurofibromatosis is a skin-neurological disease characterized by tumours around the nerves. The NF1 gene has 350kb long and contains 60 exons and encodes a protein called neurofibromin. Due to the large size of the NF1 gene and the diversity of mutations, identifying mutations in this gene is a major challenge. In this study, 10 patients with Type 1 neurofibromatosis were taken and genomic DNA was purified using salting out method. Following the design of the primers, sequencing was performed after amplification of the 15 exon fragments using PCR. Finally, sequenced fragments were compared with reference exons using the Pairwise Sequence Alignment software, and mutations were identified by considering the polymorphism and variants. The results showed that small-scale mutations such as deletion, insertion, replacement in exons of NF1 gene were present, as well as exons 40 (c.5811-5811 delT), exon 35 (c.4537 C>T) and exone 41-42 ( c.6259-6260 insA .( In conclusion, these results help to better understand the molecular mechanisms of the disease, as well as genetics counseling of NF1.