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. 1995 Dec;32(12):938–941. doi: 10.1136/jmg.32.12.938

Detection of germline mutations in the von Hippel-Lindau disease gene by the primer specified restriction map modification method.

T Kishida 1, F Chen 1, M I Lerman 1, B Zbar 1
PMCID: PMC1051772  PMID: 8825919

Abstract

Von Hippel-Lindau disease (VHL) is an inherited disorder characterised by a predisposition to develop tumours in the eyes, central nervous system, kidneys, and adrenal glands. Recently the VHL gene was cloned and shown to be mutated in 75% of US and Canadian VHL families. To develop simple, rapid methods for the detection of mutations found in large numbers of affected people, we designed based on the primer specified restriction site modification method. These tests have proved useful in identifying asymptomatic mutated VHL gene carriers who have the nt 505 T to C mutation or the nt 686 T to C mutation. Together with an MspI digestion test which can detect a mutation hot spot in codon 238, polymerase chain reaction/restriction endonuclease based tests can now detect VHL mutations in more than 50% of VHL type 2 families.

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Selected References

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  1. Brauch H., Kishida T., Glavac D., Chen F., Pausch F., Höfler H., Latif F., Lerman M. I., Zbar B., Neumann H. P. Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect. Hum Genet. 1995 May;95(5):551–556. doi: 10.1007/BF00223868. [DOI] [PubMed] [Google Scholar]
  2. Chen F., Kishida T., Yao M., Hustad T., Glavac D., Dean M., Gnarra J. R., Orcutt M. L., Duh F. M., Glenn G. Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. Hum Mutat. 1995;5(1):66–75. doi: 10.1002/humu.1380050109. [DOI] [PubMed] [Google Scholar]
  3. Crossey P. A., Maher E. R., Jones M. H., Richards F. M., Latif F., Phipps M. E., Lush M., Foster K., Tory K., Green J. S. Genetic linkage between von Hippel-Lindau disease and three microsatellite polymorphisms refines the localisation of the VHL locus. Hum Mol Genet. 1993 Mar;2(3):279–282. doi: 10.1093/hmg/2.3.279. [DOI] [PubMed] [Google Scholar]
  4. Crossey P. A., Richards F. M., Foster K., Green J. S., Prowse A., Latif F., Lerman M. I., Zbar B., Affara N. A., Ferguson-Smith M. A. Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. Hum Mol Genet. 1994 Aug;3(8):1303–1308. doi: 10.1093/hmg/3.8.1303. [DOI] [PubMed] [Google Scholar]
  5. Glenn G. M., Linehan W. M., Hosoe S., Latif F., Yao M., Choyke P., Gorin M. B., Chew E., Olfield E., Manolatos C. Screening for von Hippel-Lindau disease by DNA polymorphism analysis. JAMA. 1992 Mar 4;267(9):1226–1231. [PubMed] [Google Scholar]
  6. Haliassos A., Chomel J. C., Tesson L., Baudis M., Kruh J., Kaplan J. C., Kitzis A. Modification of enzymatically amplified DNA for the detection of point mutations. Nucleic Acids Res. 1989 May 11;17(9):3606–3606. doi: 10.1093/nar/17.9.3606. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Hosoe S., Brauch H., Latif F., Glenn G., Daniel L., Bale S., Choyke P., Gorin M., Oldfield E., Berman A. Localization of the von Hippel-Lindau disease gene to a small region of chromosome 3. Genomics. 1990 Dec;8(4):634–640. doi: 10.1016/0888-7543(90)90249-t. [DOI] [PubMed] [Google Scholar]
  8. Karsdorp N., Elderson A., Wittebol-Post D., Hené R. J., Vos J., Feldberg M. A., van Gils A. P., Jansen-Schillhorn van Veen J. M., Vroom T. M., Höppener J. W. Von Hippel-Lindau disease: new strategies in early detection and treatment. Am J Med. 1994 Aug;97(2):158–168. doi: 10.1016/0002-9343(94)90026-4. [DOI] [PubMed] [Google Scholar]
  9. Lamiell J. M., Salazar F. G., Hsia Y. E. von Hippel-Lindau disease affecting 43 members of a single kindred. Medicine (Baltimore) 1989 Jan;68(1):1–29. doi: 10.1097/00005792-198901000-00001. [DOI] [PubMed] [Google Scholar]
  10. Latif F., Tory K., Gnarra J., Yao M., Duh F. M., Orcutt M. L., Stackhouse T., Kuzmin I., Modi W., Geil L. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science. 1993 May 28;260(5112):1317–1320. doi: 10.1126/science.8493574. [DOI] [PubMed] [Google Scholar]
  11. Maher E. R., Bentley E., Payne S. J., Latif F., Richards F. M., Chiano M., Hosoe S., Yates J. R., Linehan M., Barton D. E. Presymptomatic diagnosis of von Hippel-Lindau disease with flanking DNA markers. J Med Genet. 1992 Dec;29(12):902–905. doi: 10.1136/jmg.29.12.902. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Maher E. R., Bentley E., Yates J. R., Latif F., Lerman M., Zbar B., Affara N. A., Ferguson-Smith M. A. Mapping of the von Hippel-Lindau disease locus to a small region of chromosome 3p by genetic linkage analysis. Genomics. 1991 Aug;10(4):957–960. doi: 10.1016/0888-7543(91)90185-h. [DOI] [PubMed] [Google Scholar]
  13. McMahon R., Mulligan L. M., Healey C. S., Payne S. J., Ponder M., Ferguson-Smith M. A., Barton D. E., Ponder B. A. Direct, non-radioactive detection of mutations in multiple endocrine neoplasia type 2A families. Hum Mol Genet. 1994 Apr;3(4):643–646. doi: 10.1093/hmg/3.4.643. [DOI] [PubMed] [Google Scholar]
  14. Moore A. T., Maher E. R., Rosen P., Gregor Z., Bird A. C. Ophthalmological screening for von Hippel-Lindau disease. Eye (Lond) 1991;5(Pt 6):723–728. doi: 10.1038/eye.1991.133. [DOI] [PubMed] [Google Scholar]
  15. Mulligan L. M., Eng C., Healey C. S., Clayton D., Kwok J. B., Gardner E., Ponder M. A., Frilling A., Jackson C. E., Lehnert H. Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nat Genet. 1994 Jan;6(1):70–74. doi: 10.1038/ng0194-70. [DOI] [PubMed] [Google Scholar]
  16. Richards F. M., Maher E. R., Latif F., Phipps M. E., Tory K., Lush M., Crossey P. A., Oostra B., Enblad P., Gustavson K. H. Detailed genetic mapping of the von Hippel-Lindau disease tumour suppressor gene. J Med Genet. 1993 Feb;30(2):104–107. doi: 10.1136/jmg.30.2.104. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Seizinger B. R., Rouleau G. A., Ozelius L. J., Lane A. H., Farmer G. E., Lamiell J. M., Haines J., Yuen J. W., Collins D., Majoor-Krakauer D. Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma. Nature. 1988 Mar 17;332(6161):268–269. doi: 10.1038/332268a0. [DOI] [PubMed] [Google Scholar]
  18. Seizinger B. R., Smith D. I., Filling-Katz M. R., Neumann H., Green J. S., Choyke P. L., Anderson K. M., Freiman R. N., Klauck S. M., Whaley J. Genetic flanking markers refine diagnostic criteria and provide insights into the genetics of Von Hippel Lindau disease. Proc Natl Acad Sci U S A. 1991 Apr 1;88(7):2864–2868. doi: 10.1073/pnas.88.7.2864. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Sorscher E. J., Huang Z. Diagnosis of genetic disease by primer-specified restriction map modification, with application to cystic fibrosis and retinitis pigmentosa. Lancet. 1991 May 11;337(8750):1115–1118. doi: 10.1016/0140-6736(91)92785-z. [DOI] [PubMed] [Google Scholar]
  20. Whaley J. M., Naglich J., Gelbert L., Hsia Y. E., Lamiell J. M., Green J. S., Collins D., Neumann H. P., Laidlaw J., Li F. P. Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma. Am J Hum Genet. 1994 Dec;55(6):1092–1102. [PMC free article] [PubMed] [Google Scholar]
  21. Xue F., Yu H., Maurer L. H., Memoli V. A., Nutile-McMenemy N., Schuster M. K., Bowden D. W., Mao J., Noll W. W. Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests. Hum Mol Genet. 1994 Apr;3(4):635–638. doi: 10.1093/hmg/3.4.635. [DOI] [PubMed] [Google Scholar]

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