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Physical mapping of chromosome 3p25-p26 by flourescence in situ hybridisation (FISH)

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Abstract

As part of our effort to isolate and characterise the von Hippel-Lindau (VHL) disease gene, we constructed a physical map of chromosome 3p25-26 by fluorescence in situ hybridisation (FISH) studies on a panel of cytogenetic rearrangements involving this region. Biotinylated cosmid and lambda probes were hybridised to metaphase chromosome spreads and positioned with respect to each cytogenetic breakpoint. These studies unequivocally established the order of five loci linked to the VHL disease gene: cen-(RAF1,312)-D3S732-D3S1250-D3S601-D3S18-pter and determined the position of three other probes within this map. These results ordered RAF1 and D3S732 for the first time, confirmed the localisation of D3S1250 between RAF1 and D3S601 and determined the position of D3S651 with respect to other chromosome 3p25-p26 loci. The establishment of an ordered set of cytogenetic aberrations will enable the rapid assignment of polymorphic and nonpolymorphic cloned sequences within the chromosome region 3p25-p26.

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References

  • Carter NP, Hampson RM, Harris RM, Yates JRW, Ferguson-Smith MA (1990) Gene mapping using flow-sorted dot blots of human chromosomes. Proc R Microsc Soc 1:511–514

    Google Scholar 

  • Crossey PA, Maher ER, Jones MH, Richards FM, Latif F, Phipps ME, Lush M, Foster K, Tory K, Green JS, Oostra B, Yates JRW, Linehan WM, Affara NA, Lerman M, Zbar B, Nakamura Y, Ferguson-Smith MA (1993) Genetic linkage between von Hippel-Lindau disease and three microsatellite polymorphisms refines the localisation of the VHL locus. Hum Mol Genet 2:279–282

    Google Scholar 

  • Ferguson-Smith MA (1991) Putting the genetics back into cytogenetics. Am J Hum Genet 48:179–182

    Google Scholar 

  • Garson JA, van den Berghe J, Kemshead JT (1987) Novel non-isotopic in situ hybridisation technique detects small (1 kb) unique sequences in routinely G banded human chromosomes: fine mapping of N-myc and B NGF genes. Nucleic Acids Res 15:4761–4770

    Google Scholar 

  • Hibi K, Takahashi T, Yamakawa K, Ueda R, Sekido Y, Ariyoshi Y, Suyama M, Takagi H, Nakamura Y, Takahashi T (1992) Three distinct regions involved in 3p deletion in human lung cancer. Oncogene 7:445–449

    Google Scholar 

  • Hosoe S, Brauch H, Latif F, Glenn G, Daniel L, Bale S, et al. (1990) Localization of the von Hippel-Lindau disease gene to a small region of chromosome 3. Genomics 8:634–640

    Google Scholar 

  • Latif F, Duh F-M, Gnarra J, Tory K, Kuzmin I, Yao M, Stackhouse T, Modi W, Geil L, Schmidt L, Li H, Orcutt ML, Mahler ER, Richards FM, Ferguson-Smith MA, Le Paslier D, Linehan M, Zbar B, Lerman M (1993) Isolation of candidate genes for the von Hippel-Lindau syndrome. Cancer Res

  • Maher ER, Yates JY, Harries R, Benjamin C, Harris R, Moore AT, Ferguson-Smith MA (1990a) Clinical features and natural history of von Hippel-Lindau disease. Q J Med 77:1151–1163

    Google Scholar 

  • Maher ER, Yates JRW, Ferguson-Smith MA (1990b) Statistical analysis of the two stage mutation model in von Hippel-Lindau disease and in sporadic cerebellar haemangioblastoma and renal cell carcinoma. J Med Genet 27:311–314

    Google Scholar 

  • Maher ER, Iselius L, Yates JRW, Littler M, Benjamin C, Harris R, Sampson J, Williams A, Ferguson-Smith MA, Morton N (1991a) Von Hippel-Lindau disease: a genetic study. J Med Genet 28:443–447

    Google Scholar 

  • Maher ER, Bentley E, Yates JRW, Latif F, Lerman M, Zbar B, Affara NA, Ferguson-Smith MA (1991b) Mapping of the von Hippel-Lindau disease locus to a small region of chromosome 3p by genetic linkage analysis. Genomics 10:957–960

    Google Scholar 

  • Nederhof PM, Flier S van der, Weigant J, Raap AK, Tanke HJ, Ploem JS, Ploeg M van der (1990) Multiple fluorescence in situ hybridisation. Cytometry 11:126–131

    Google Scholar 

  • Pinkel DL, Landegent JE, Collins C, Fuscoe J, Segraves R, Lucas J, Gray J (1988) Fluorescence in situ hybridisation with human chromosome specific libraries: detection of trisomy 21 and translocations of chromosome 4. Proc Natl Acad Sci USA 85:9138–9142

    CAS  PubMed  Google Scholar 

  • Reifen RM, Gale R, Kerem E, Arman Y, Brand A, Dagan J, Kohn G (1986) Partial deletion of the short arm of chromosome 3: further delineation of the 3p25-pter syndrome. Clin Genet 29:538–542

    Google Scholar 

  • Richards FM, Maher ER, Latif F, Phipps ME, Tory K, Lush M, Crossey PA, Oostra B, Gustavson KH, Green J, Turner G, Yates JRW, Linehan M, Affara NA, Lerman M, Zbar B, Ferguson Smith MA (1993) Detailed genetic mapping of the Von Hippel-Lindau disease tumour suppressor gene. J Med Genet 30:104–107

    Google Scholar 

  • Seizinger BR, Smith DI, Filling-Katz MR, Neumann H, Green JS, Choyke PL, Anderson KM, Freiman RN, Klauck SM, Whaley J, et al (1991) Genetic flanking markers refine diagnostic criteria and provide insights into the genetics of Von Hippel Lindau disease. Proc Natl Acad Sci USA 88:2864–2868

    Google Scholar 

  • Tazelaar J, Roberson J, Van Dyke DL, Babu VR, Weiss L (1991) Mother and son with deletion of 3p25-pter. Am J Med Genet 39:130–132

    Google Scholar 

  • Tolmie JL, Batstone P, Ruthven I, Gilmore DH (1986) Partial deletion of the short arm of chromosome 3. Clin Genet 29:538–542

    Google Scholar 

  • Tory K, Brauch H, Linehan M, Barba D, Oldfield E, Filling-Katz M, Seizinger B, Nakamura Y, White R, Marshall FF, et al (1989) Specific genetic change in tumors associated with von Hippel-Lindau disease. J Natl Cancer Inst 81:1097–1101

    Google Scholar 

  • Tory K, Latif F, Modi W, Schimdt L, Wei MH, Li H, Cobler P, Orutt ML, Delisio J, Geil L, Zbar B, Lerman M (1992) A genetic linkage map of 96 loci on the short arm of human chromosome 3. Genomics 13:275–286

    Google Scholar 

  • Yamakawa K, Takahashi E, Saito H, Sato T, Oshimura M, Hori T, Nakamura Y (1991) Isolation and mapping of 75 new DNA markers on human chromosome 3. Genomics 9:536–543

    Google Scholar 

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Phipps, M.E., Maher, E.R., Affara, N.A. et al. Physical mapping of chromosome 3p25-p26 by flourescence in situ hybridisation (FISH). Hum Genet 92, 18–22 (1993). https://doi.org/10.1007/BF00216139

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