© Federation of European Biochemical Societies
PS01-0551 |
C. Lui, Y. Chen and C. Lin. |
School of Medical Technology, College of Medicine, Chang Gung Univeristy, Kwei Shan To Yuan, Taiwan |
The Nf1 genes, consists of 61 exons spaning 350 Kb of genomic DNA, was sequencing and identified in chromosome (17q 11.2). The 12 Kb mRNA transcript encodes a 2,818 residue protein, neurofibromin. The ‘GAP related domain (GRD)', with strong sequence homology to the catalytic domain of the GTPase-activating proteins (GAPs) superfamily for the Ras family of proto-oncogenes, was identified in the central domain of ~360 amino acid. This molecular switch plays a critical role in t cellular growth and differentiation. However, GRD is the only part of the neurofibromin protein whose biological function is clear. Other than the GRD, Nf1 gene product is still mystic. Clinically, mRNA is edited with base modification to the truncated forms synthesized. Truncated forms of neurofibromin compete with the normal one for Ras binding. That is, the mutant one can affect the function of wild type to inactive the Ras activity. Because the Nf1 gene with large size, mutation screening is just focused on the partial gene at a time rather than on the full-length coding region traditionally. The total RNA was extracted and reverse transcription was done. Then, the rapid translation system is used to express the Nf1 gene. The mutant can be detected and analyzed because disease-causing mutations are dispersed throughout the gene. In future, establishing the database of the Taiwan patient for diagnosis and consultation will be applied on the results. And the mechanism will be elucidated later. |
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