Fine structure DNA mapping studies of the chromosomal region harboring the genetic defect in neurofibromatosis type 1

• Published in: American journal of human genetics Vol. 44; no. 1; pp. 51 - 57
• Main Authors: O'CONNELL, P, LEACH, R. J, SCHAFER, M. J, FOUNTAIN, J. W, WALLACE, M. R, COLLINS, F. S, SKOLNICK, M.H, RICH, D. C, FOURNIER, R. E. K, BATY, B. J, CAREY, J. C, LEPPERT, M. F, LEDBETTER, D. H, LATHROP, G. M, LALOUEL, J.-M, WHITE, R, CAWTHON, R. M, CULVER, M, ELDRIDGE, J. R, FREJ, A.-K, HOLM, T. R, WOLFF, E, THAYER, M. J
• Format: Journal Article
• Language: English
• Published: Chicago, IL University of Chicago Press 1989
• Subjects: Biological and medical sciences; Medical sciences; Neurology; Original; Tumors of the nervous system. Phacomatoses; Tumor; Phacomatosis; Neurofibromatosis Recklinghausen; Genetic disease
• ISSN: 0002-9297; 1537-6605

To better map the location of the von Recklinghausen neurofibromatosis (NF1) gene, the authors have characterized a somatic cell hybrid designated 7 AE-11. This microcell-mediated, chromosome-transfer construct harbors a centromeric segment and a neo-marked segment from the distal long arm of human chromosome 17. They have identified 269 cosmid clones with human sequences from a 7AE-11 library and, using a panel of somatic cell hybrids with a total of six chromosome 17q breakpoints, have mapped 240 of these clones on chromosome 17q. The panel included a hybrid (NF13) carrying a der(22) chromosome that was isolated from an NF1 patient with a balanced translocation, t(17; 22) (q11.2; q11.2). Fifty-three of the cosmids map into a region spanning the NF13 breakpoint, as defined by the two closest flanking breakpoints (17q11.2 and 17q11.2-q12). RFLP clones from a subset of these cosmids have been mapped by linkage analysis in normal reference families, to localize the NF1 gene more precisely and to enhance the potential for genetic diagnosis of this disorder.