Genetic and physical map of the von Recklinghausen neurofibromatosis (NF1) region on chromosome 17

Proc Natl Acad Sci U S A. 1990 Sep;87(18):7255-9. doi: 10.1073/pnas.87.18.7255.

Abstract

The von Recklinghausen neurofibromatosis 1 (NF1) locus has been previously assigned to the proximal long arm of chromosome 17, and two NF1 patients have been identified who have constitutional balanced translocations involving 17q11.2. We have constructed a cosmid library from a chromosome-mediated gene transfectant, KLT8, that contains approximately 10% of chromosome 17, including 17q11.2. Cosmids isolated from this library have been mapped across a panel of somatic cell hybrids, including the hybrids from the two patients, and have been localized to seven small regions of proximal 17q. We have 5 cosmids that map directly above the two NF1 translocations, and 11 cosmids that map directly below. Of these, 2 cosmids in each region are linked to the disease locus and 3 of these cosmids show no recombination. One distal cosmid, 2B/B35, detects the two NF1 translocations by pulsed-field gel analysis and has been used to produce a long-range restriction map that covers the translocations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blotting, Southern
  • Cell Line
  • Chromosome Mapping
  • Chromosomes, Human, Pair 17*
  • Cosmids
  • DNA / genetics
  • DNA / isolation & purification
  • Gene Library
  • Genetic Linkage
  • Humans
  • Neurofibromatosis 1 / genetics*
  • Recombination, Genetic
  • Restriction Mapping
  • Transfection

Substances

  • DNA