Detection of Germlike and Somatic Mutations in the Neurofibromatosis 1 Gene

摘要

This research project sought to improve mutation detection in theneurofibromatosis 1 gene (NF1), to determine the spectrum and significance of germline NF1 mutations in neurofibromatosis 1 patients, and to determine the spectrum and significance of somatic NF1 mutations in sporadic tumors of several types in the general population. Several mutation detection approaches were explored. The best results came from screening the entire Open Reading Frame of the NF1 messenger RNA by two rapid, sensitive as says for changes in length, and one additional assay for mutations that prematurely terminate translation of the neurofibromin protein; the combination of these methods resulted in detection of mutations in 19 of 23 unrelated NF1 patients (83%). Since these as says systematically miss mutations in mRNA that result only in amino acid