Accession Number : ADA324299

Title :   Detection of Germlike and Somatic Mutations in the Neurofibromatosis 1 Gene.

Descriptive Note : Final rept. 22 Sep 93-21 Sep 96,

Corporate Author : UTAH UNIV SALT LAKE CITY

Personal Author(s) : Cawthon, Richard M.

PDF Url : ADA324299

Report Date : OCT 1996

Pagination or Media Count : 45

Abstract : This research project sought to improve mutation detection in the neurofibromatosis 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 substitutions, it is likely that over 90% of neurofibromatosis 1 - causing mutations alter the structure of the NF1 mRNA. No differences in the nature or location of NF1 mutations were discerned when familial and 'new mutation' patients with neurofibromatosis 1 were compared. Somatic NF1 mutations were sought in tumor cell lines established from cancers of the colon, breast, and brain. One or more cell lines representing each tumor type were positive for mutation.

Descriptors :   *FIBER OPTICS, *DETECTION, *MUTATIONS, *GERM CELLS, *FIBROSIS, BRAIN, PROTEINS, NEOPLASMS, PATIENTS, RIBONUCLEIC ACIDS, AMINO ACIDS, CANCER, SUBSTITUTION REACTIONS, COLON.

Subject Categories : Anatomy and Physiology
      Medicine and Medical Research
      Optics

Distribution Statement : APPROVED FOR PUBLIC RELEASE