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. 1989 Jan;44(1):33–37.

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

Scott R Diehl, Michael Boehnke, Robert P Erickson, Lynn M Ploughman, Kathleen A Seiler, Janice L Lieberman, H Bush Clarke, Melissa A Bruce, Elizabeth K Schorry, Margaret Pericak-Vance, Peter O'Connell, Francis S Collins
PMCID: PMC1715450  PMID: 2491779

Abstract

The von Recklinghausen neurofibromatosis (NF1) gene has been mapped to the pericentromeric region of chromosome 17. We conducted linkage analyses of NF1 by using 10 polymorphic DNA markers from this chromosomal region. We ascertained 20 American Caucasian NF1 families (163 individuals, 98 NF1 affected) 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.

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Selected References

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  1. Barker D., Wright E., Nguyen K., Cannon L., Fain P., Goldgar D., Bishop D. T., Carey J., Baty B., Kivlin J. Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17. Science. 1987 May 29;236(4805):1100–1102. doi: 10.1126/science.3107130. [DOI] [PubMed] [Google Scholar]
  2. Diehl S. R., Boehnke M., Collins F. S., Erickson R. P., Karolyi I. J., Ploughman L. M., Pericak-Vance M. A., Aylsworth A. S., Roses A. D. Linkage analysis of peripheral neurofibromatosis to DNA markers on chromosome 8. J Med Genet. 1987 Sep;24(9):532–534. doi: 10.1136/jmg.24.9.532. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Diehl S. R., Boehnke M., Erickson R. P., Baxter A. B., Bruce M. A., Lieberman J. L., Platt D. J., Ploughman L. M., Seiler K. A., Sweet A. M. Linkage analysis of von Recklinghausen neurofibromatosis to DNA markers on chromosome 17. Genomics. 1987 Dec;1(4):361–363. doi: 10.1016/0888-7543(87)90039-5. [DOI] [PubMed] [Google Scholar]
  4. Fain P. R., Barker D. F., Goldgar D. E., Wright E., Nguyen K., Carey J., Johnson J., Kivlin J., Willard H., Mathew C. Genetic analysis of NF1: identification of close flanking markers on chromosome 17. Genomics. 1987 Dec;1(4):340–345. doi: 10.1016/0888-7543(87)90034-6. [DOI] [PubMed] [Google Scholar]
  5. Fountain J. W., Wallace M. R., Brereton A. M., O'Connell P., White R. L., Rich D. C., Ledbetter D. H., Leach R. J., Fournier R. E., Menon A. G. Physical mapping of the von Recklinghausen neurofibromatosis region on chromosome 17. Am J Hum Genet. 1989 Jan;44(1):58–67. [PMC free article] [PubMed] [Google Scholar]
  6. Goldgar D. E., Green P., Parry D. M., Mulvihill J. J. Multipoint linkage analysis in neurofibromatosis type I: an international collaboration. Am J Hum Genet. 1989 Jan;44(1):6–12. [PMC free article] [PubMed] [Google Scholar]
  7. MORTON N. E. Sequential tests for the detection of linkage. Am J Hum Genet. 1955 Sep;7(3):277–318. [PMC free article] [PubMed] [Google Scholar]
  8. Mathieu-Mahul D., Xu D. Q., Saule S., Lidereau R., Galibert F., Berger R., Mauchauffé M., Larsen C. J. An EcoRI restriction fragment length polymorphism (RFLP) in the human c-erb A locus. Hum Genet. 1985;71(1):41–44. doi: 10.1007/BF00295666. [DOI] [PubMed] [Google Scholar]
  9. O'Connell P., Leach R. J., Ledbetter D. H., Cawthon R. M., Culver M., Eldridge J. R., Frej A. K., Holm T. R., Wolff E., Thayer M. J. Fine structure DNA mapping studies of the chromosomal region harboring the genetic defect in neurofibromatosis type I. Am J Hum Genet. 1989 Jan;44(1):51–57. [PMC free article] [PubMed] [Google Scholar]
  10. Ott J. Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies. Am J Hum Genet. 1974 Sep;26(5):588–597. [PMC free article] [PubMed] [Google Scholar]
  11. Pericak-Vance M. A., Yamaoka L. H., Vance J. M., Small K., Rosenwasser G. O., Gaskell P. C., Jr, Hung W. Y., Alberts M. J., Haynes C. S., Speer M. C. Genetic linkage studies of chromosome 17 RFLPs in von Recklinghausen neurofibromatosis (NF1). Genomics. 1987 Dec;1(4):349–352. doi: 10.1016/0888-7543(87)90036-x. [DOI] [PubMed] [Google Scholar]
  12. Rider S. H., Bailey C. J., Voss R., Sheer D., Hiorns L. R., Solomon E. RFLP for the human erb-A1 gene. Nucleic Acids Res. 1987 Jan 26;15(2):863–863. doi: 10.1093/nar/15.2.863. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Sarfarazi M., Huson S. M., Edwards J. H. An exclusion map for Von Recklinghausen neurofibromatosis. J Med Genet. 1987 Sep;24(9):515–520. doi: 10.1136/jmg.24.9.515. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Seizinger B. R., Rouleau G. A., Ozelius L. J., Lane A. H., Faryniarz A. G., Chao M. V., Huson S., Korf B. R., Parry D. M., Pericak-Vance M. A. Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene. Cell. 1987 Jun 5;49(5):589–594. doi: 10.1016/0092-8674(87)90534-4. [DOI] [PubMed] [Google Scholar]
  15. Skolnick M. H., Ponder B., Seizinger B. Linkage of NF1 to 12 chromosome 17 markers: a summary of eight concurrent reports. Genomics. 1987 Dec;1(4):382–383. doi: 10.1016/0888-7543(87)90043-7. [DOI] [PubMed] [Google Scholar]
  16. Stephens K., Green P., Riccardi V. M., Ng S., Rising M., Barker D., Darby J. K., Falls K. M., Collins F. S., Willard H. F. Genetic analysis of eight loci tightly linked to neurofibromatosis 1. Am J Hum Genet. 1989 Jan;44(1):13–19. [PMC free article] [PubMed] [Google Scholar]
  17. Stephens K., Riccardi V. M., Rising M., Ng S., Green P., Collins F. S., Rediker K. S., Powers J. A., Parker C., Donis-Keller H. Linkage studies with chromosome 17 DNA markers in 45 neurofibromatosis 1 families. Genomics. 1987 Dec;1(4):353–357. doi: 10.1016/0888-7543(87)90037-1. [DOI] [PubMed] [Google Scholar]
  18. Vance J. M., Pericak-Vance M. A., Yamaoka L. H., Speer M. C., Rosenwasser G. O., Small K., Gaskell P. C., Jr, Hung W. Y., Alberts M. J., Haynes C. S. Genetic linkage mapping of chromosome 17 markers and neurofibromatosis type I. Am J Hum Genet. 1989 Jan;44(1):25–29. [PMC free article] [PubMed] [Google Scholar]
  19. White R., Nakamura Y., O'Connell P., Leppert M., Lalouel J. M., Barker D., Goldgar D., Skolnick M., Carey J., Wallis C. E. Tightly linked markers for the neurofibromatosis type 1 gene. Genomics. 1987 Dec;1(4):364–367. doi: 10.1016/0888-7543(87)90040-1. [DOI] [PubMed] [Google Scholar]
  20. Willard H. F., Greig G. M., Powers V. E., Waye J. S. Molecular organization and haplotype analysis of centromeric DNA from human chromosome 17: implications for linkage in neurofibromatosis. Genomics. 1987 Dec;1(4):368–373. doi: 10.1016/0888-7543(87)90041-3. [DOI] [PubMed] [Google Scholar]
  21. van Tuinen P., Rich D. C., Summers K. M., Ledbetter D. H. Regional mapping panel for human chromosome 17: application to neurofibromatosis type 1. Genomics. 1987 Dec;1(4):374–381. doi: 10.1016/0888-7543(87)90042-5. [DOI] [PubMed] [Google Scholar]

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