Physical mapping of the von Recklinghausen neurofibromatosis region on chromosome 17

J. W. Fountain, M. R. Wallace, A. M. Brereton, P. O'Connell, R. L. White, D. C. Rich, D. H. Ledbetter, R. J. Leach, R. E.K. Fournier, A. G. Menon, J. F. Gusella, D. Barker, K. Stephens, F. S. Collins

Research output: Contribution to journalArticlepeer-review

57 Scopus citations


The von Recklinghausen neurofibromatosis (NF1) locus has been linked to chromosome 17, and recent linkage analyses (see accompanying papers in this issue) place the gene on the proximal long arm. NF1 probably resides in 17q11.2, since two unrelated NF1 patients have been identified who possess constitutional reciprocal translocations involving 17q11.2 with chromosomes 1 and 22. We have used a somatic-cell hybrid from the t(17;22) individual, along with other hybrid cell lines, to order probes around the NF1 locus. An additional probe, 17L1, has been isolated from a NotI linking library made from flow-sorted chromosome 17 material and has been mapped to a region immediately proximal to the translocation breakpoint. While neither NF1 translocation breakpoint has yet been identified by pulsed-field gel analysis, an overlap between two probes, EW206 and EW207, has been detected. Furthermore, we have identified the breakpoint in a non-NF1 translocation, SP-3, on the proximal side of the NF1 locus. This breakpoint has been helpful in creating a 1,000-kb pulsed-field map, which includes the closely linked NF1 probes HHH202 and TH17.19. The combined somatic-cell hybrid and pulsed-field gel analysis we report here favors the probe order D17Z1-HHH202-TH17.19-CRYB1-17L1-NF1-(EW206, EW207, EW203, L581, L946)-(ERBB2, ERBA1). The agreement in probe ordering between linkage analysis and physical mapping is excellent, and the availability of translocation breakpoints in NF1 should now greatly assist the cloning of this locus.

Original languageEnglish (US)
Pages (from-to)58-67
Number of pages10
JournalAmerican Journal of Human Genetics
Issue number1
StatePublished - 1989
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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