Donna C. Rich

TL;DR: The flanking break points of SP3 and API are useful for rapidly localizing new markers to the neurofibromatosis critical region, while the breakpoints of the two translocation patients provide unique opportunities for reverse genetic strategies to clone the NF1 gene.

TL;DR: Physical mapping of linked markers confirms a pericentromeric location of NF1 and, along with other data, suggests the most likely localization is proximal 17q, which is related to von Recklinghausen neurofibromatosis.

TL;DR: The results indicate that MDS can be caused by submicroscopic deletion and raises the possibility that all MDS patients will prove to have deletions at a molecular level.

TL;DR: The probable role of Evi-2 in murine neoplastic disease and the map location of the human homolog suggest a potential role for EVI2 in NF1, but no physical rearrangements of this gene locus are apparent in 87 NF1 patients.

TL;DR: Human cosmids were isolated and mapped in the immediate vicinity of NF1 to better localize the end points of these translocation events, and the NF1 gene (NF1) itself, and demonstrated that both translocation breakpoints are contained within a 600-kilobase Nru I fragment.