A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene

S. R. Diehl, M. Boehnke, R. P. Erickson, L. M. Ploughman, K. A. Seiler, J. L. Lieberman, H. B. Clarke, M. A. Bruce, E. K. Schorry, M. Pericak-Vance, P. O'Connell, F. S. Collins

Research output: Contribution to journalArticle

5 Scopus citations

Abstract

The von Recklinghausen neurofibromatosis (NF1) gene has been mapped to the pericentromeric region of chromosome 17. We conducted linkage analysis of NF1 by using 10 polymorphic DNA markers from this chromosomal region. We ascertained 20 American Caucasian NF1 families (163 individuals, 98 NF1 afffected) in Michigan and Ohio and also studied a large family ascertained primarily in North Carolina. The following markers were used in this study: HHH202, TH17.19, D17Z1, ERBA1, EW203, EW206, EW207, EW301, CRI-L581, and CRI-L946. NF1 did not recombine with either TH17.19 or HHH202 in any of the informative meioses surveyed (maximum lod scores of 17.04 and 7.21, respectively, at a recombination fraction of .00), indicating that these markers map very close to the NF1 gene. We also report evidence of three instances of recombination between NF1 and the centromeric marker D17Z1 (maximum lod score of 13.43 at a recombination fraction of .04), as well as two crossovers between pairs of marker loci. We find no evidence of locus heterogeneity, and our results support the localization of the NF1 gene to proximal chromosome 17q.

Original languageEnglish (US)
Pages (from-to)33-37
Number of pages5
JournalAmerican journal of human genetics
Volume44
Issue number1
StatePublished - 1989

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Diehl, S. R., Boehnke, M., Erickson, R. P., Ploughman, L. M., Seiler, K. A., Lieberman, J. L., Clarke, H. B., Bruce, M. A., Schorry, E. K., Pericak-Vance, M., O'Connell, P., & Collins, F. S. (1989). A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene. American journal of human genetics, 44(1), 33-37.