Skip to main content
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1989 Jan;44(1):13–19.

Genetic analysis of eight loci tightly linked to neurofibromatosis 1

Karen Stephens, Philip Green, Vincent M Riccardi, Siu Ng, Marcia Rising, David Barker, John K Darby, Kathleen M Falls, Francis S Collins, Huntington F Willard, Helen Donis-Keller
PMCID: PMC1715471  PMID: 2491775

Abstract

The genetic locus for neurofibromatosis 1 (NF1) has recently been mapped to the pericentromeric region of chromosome 17. We have genotyped eight previously identified RFLP probes on 50 NF1 families to determine the placement of the NF1 locus relative to the RFLP loci. Thirty-eight recombination events in the pericentromeric region were identified, eight involving crossovers between NF1 and loci on either chromosomal arm. Multipoint linkage analysis resulted in the unique placement of six loci at odds >100:1 in the order of pter–A10-41–EW301–NF1–EW207–CRI-L581–CRI-L946–qter. Owing to insufficient crossovers, three loci–D17Z1, EW206, and EW203–could not be uniquely localized. In this region female recombination rates were significantly higher than those of males. These data were part of a joint study aimed at the localization of both NF1 and tightly linked pericentromeric markers for chromosome 17.

Full text

PDF
14

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Barker D., Green P., Knowlton R., Schumm J., Lander E., Oliphant A., Willard H., Akots G., Brown V., Gravius T. Genetic linkage map of human chromosome 7 with 63 DNA markers. Proc Natl Acad Sci U S A. 1987 Nov;84(22):8006–8010. doi: 10.1073/pnas.84.22.8006. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. 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]
  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. Disteche C. M., Brown L., Saal H., Friedman C., Thuline H. C., Hoar D. I., Pagon R. A., Page D. C. Molecular detection of a translocation (Y;15) in a 45,X male. Hum Genet. 1986 Dec;74(4):372–377. doi: 10.1007/BF00280488. [DOI] [PubMed] [Google Scholar]
  5. Donis-Keller H., Green P., Helms C., Cartinhour S., Weiffenbach B., Stephens K., Keith T. P., Bowden D. W., Smith D. R., Lander E. S. A genetic linkage map of the human genome. Cell. 1987 Oct 23;51(2):319–337. doi: 10.1016/0092-8674(87)90158-9. [DOI] [PubMed] [Google Scholar]
  6. 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]
  7. Fain P. R., Wright E., Willard H. F., Stephens K., Barker D. F. The order of loci in the pericentric region of chromosome 17, based on evidence from physical and genetic breakpoints. Am J Hum Genet. 1989 Jan;44(1):68–72. [PMC free article] [PubMed] [Google Scholar]
  8. 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]
  9. 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]
  10. Jarman A. P., Nicholls R. D., Weatherall D. J., Clegg J. B., Higgs D. R. Molecular characterisation of a hypervariable region downstream of the human alpha-globin gene cluster. EMBO J. 1986 Aug;5(8):1857–1863. doi: 10.1002/j.1460-2075.1986.tb04437.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Neitzel H. A routine method for the establishment of permanent growing lymphoblastoid cell lines. Hum Genet. 1986 Aug;73(4):320–326. doi: 10.1007/BF00279094. [DOI] [PubMed] [Google Scholar]
  12. 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]
  13. Riccardi V. M., Carey J. C. Von Recklinghausen neurofibromatosis and genetic linkage studies: clinical considerations. J Med Genet. 1987 Sep;24(9):521–522. doi: 10.1136/jmg.24.9.521. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Seizinger B. R., Rouleau G. A., Lane A. H., Farmer G., Ozelius L. J., Haines J. L., Parry D. M., Korf B. R., Pericak-Vance M. A., Faryniarz A. G. Linkage analysis in von Recklinghausen neurofibromatosis (NF1) with DNA markers for chromosome 17. Genomics. 1987 Dec;1(4):346–348. doi: 10.1016/0888-7543(87)90035-8. [DOI] [PubMed] [Google Scholar]
  15. 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]
  16. 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]
  17. Upadhyaya M., Sarfarazi M., Huson S. M., Stephens K., Broadhead W., Harper P. S. Chromosome 17 markers and von Recklinghausen neurofibromatosis: a genetic linkage study in a British population. Genomics. 1987 Dec;1(4):358–360. doi: 10.1016/0888-7543(87)90038-3. [DOI] [PubMed] [Google Scholar]
  18. 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]
  19. 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]
  20. Willard H. F., Waye J. S., Skolnick M. H., Schwartz C. E., Powers V. E., England S. B. Detection of restriction fragment length polymorphisms at the centromeres of human chromosomes by using chromosome-specific alpha satellite DNA probes: implications for development of centromere-based genetic linkage maps. Proc Natl Acad Sci U S A. 1986 Aug;83(15):5611–5615. doi: 10.1073/pnas.83.15.5611. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES