The human genome project and the future of diagnostics, treatment, and prevention

Lancet

Volumn 354, Issue SUPPL.1, 1999, Pages 5-10

  Van Ommen, G J B ^a   Bakker, E ^a   Den Dunnen, J T ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

FLUORESCENT DYE; GENE PRODUCT;

DIAGNOSTIC TEST; GENE EXPRESSION; GENE MUTATION; GENE THERAPY; GENETIC DISORDER; GENOME; HUMAN; MEDICAL GENETICS; PRIORITY JOURNAL; REVIEW; SCREENING;

EID: 0002391321     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0140-6736(99)90241-6     Document Type: Article

References (49)

1. Athma P, Rappaport R, Swift M. Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer. Cancer Genet Cytogenet 1996; 92: 130-34.
2. de Knijff P, van den Maagdenberg AMJM, Frants RR, Havekes LM. Genetic heterogeneity of apolipoprotein E and its influence on plasma lipid and lipoprotein levels. Hum Mutat 1994; 4: 178-94.
3. Farrell PM, Kosorok MR, Laxova A, et al. Nutritional benefits of neonatal screening for cystic fibrosis. N Engl J Med 1997; 337: 963-69.
4. Turner G, Webb T, Wake S, Robinson H. Prevalence of fragile X syndrome. Am J Med Genet 1996; 64: 196-97.
5. Peters DJ, Spruit L, Saris JJ, et al. Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease. Nat Genet 1993; 5: 359-62.
6. Lynch HT, Lemon SJ, Karr B, et al. Etiology, natural history, management, and molecular genetics of hereditary nonpolyposis colorectal cancer (Lynch syndromes): genetic counseling implications. Cancer Epidemiol Biomarkers Prev 1997; 6: 987-91.
7. Krawczak M, Cooper DN. The human gene mutation database. Trends Genet 1997; 13: 121-122.
8. Koptides M, Hadjimichael C, Koupepidou P, Pierides A, Constantinou Deltas C. Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease. Hum Mol Genet 1999; 8: 509-13.
9. Ford D, Easton DF, Stratton M, et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am J Hum Genet 1998; 62: 676-89.
10. Peltomaki P, Vasen HF. Mutations predisposing to hereditary non-polyposis colorectal cancer: database and results of a collaborative study. Gastroenterology 1997; 113: 1146-58.
11. Wijnen JT, Vasen HF, Khan PM, et al. Clinical findings with implications for genetic testing in families with clustering of colorectal cancer. N Engl J Med 1998; 339: 511-18.
12. Roest PA, Bakker E, Fallaux FJ, Verellen-Dumoulin C, Murry CE, den Dunnen JT. New possibilities for prenatal diagnosis of muscular dystrophies: forced myogenesis with an adenoviral MyoD-vector. Lancet 1999; 353: 727-28.
13. Becker J, Schwaab R, Moller-Taube A, et al. Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies. Am J Hum Genet 1996; 58: 657-70.
14. Kalaydjieva L, Dworniczak B, Aulehla-Scholz C, et al. Silent mutations in the phenylalanine hydroxylase gene as an aid to the diagnosis of phenylketonuria. J Med Genet 1991; 28: 686-90.
15. Watnick TJ, Piontek KB, Cordai TM, et al. An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection. Hum Mol Genet 1997; 6: 1473-1481.
16. Petrij-Bosch A, Peelen T, van Vliet M, et al. BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet 1997; 17: 341-45.
17. Sandoval N, Platzer M, Rosenthal A, et al. Characterization of ATM gene mutations in 66 ataxia telangiectasia families. Hum Mol Genet 1999; 8: 69-79.
18. van der Luijt RB, Khan PM, Vasen HF, et al. Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and Southern analysis. Hum Mutat 1997; 9: 7-16.
19. Gieser L, Fujita R, Goring HHH, et al. A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27. Am J Hum Genet 1998; 63: 1439-17.
20. Dudok de Wit AC, Tibben A, Duivenvoorden HJ, et al. Predicting adaptation to presymptomatic DNA testing for late onset disorders: who will experience distress? Rotterdam Leiden Genetics Workgroup. J Med Genet 1998; 35: 745-54.
21. de Wert G. Ethics of predictive DNA-testing for hereditary breast and ovarian cancer. Patient Educ Couns 1998; 35: 43-52.
22. Cotton RGH. Mutation detection. Oxford: Oxford University Press, 1997.
23. Orita M, Suzuki Y, Sekiya T, Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 1989; 5: 874-79.
24. Sheffield VC, Cox DR, Lerman LS, Myers RM. Attachment of a 40-base-pair G+C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes. Proc Natl Acad Sci USA 1989; 86: 232-36.
25. van Orsouw NJ, Dhanda RK, Rines RD, et al. Rapid design of denaturing gradient-based two-dimensional electrophoretic gene mutational scanning tests. Nucleic Acids Res 1998; 26: 2398-406.
26. White MB, Carvalho M, Derse D, O'Brien SJ, Dean M. Detecting single base substitutions as heteroduplex polymorphisms. Genomics 1992; 12: 301-06.
27. Jin L, Underhill PA, Oefner PJ, Cavalli-Sforza LL. Systematic search for polymorphisms in the human genome using denaturing high-performance liquid chromatography (DHPLC). Am J Hum Genet 1995; 57: A26.
28. Cotton RGH. Detection of mutations in DNA and RNA by chemical cleavage. In: Mathew C, ed. Methods in molecular biology. Clifton: Humana Press, 1991: 39-49.
29. Lambrinakos A, Humphrey KE, Babon JJ, Ellis TP, Cotton RG. Reactivity of potassium permanganate and tetraethylammonium chloride with mismatched bases and a simple mutation detection protocol. Nucleic Acids Res 1999; 27: 1866-74.
30. Youil R, Kemper BW, Cotton RGH. Detection of 81 of 81 known mouse beta-globin promotor mutations with T4 endonuclease VII - the ECM method. Genomics 1996; 32: 431-35.
31. Roest PA, Roberts RG, Sugino S, van Ommen GJ, den Dunnen JT. Protein truncation test (PTT) for rapid detection of translation-terminating mutations. Hum Mol Genet 1993; 2: 1719-21.
32. Den Dunnen JT, Van Ommen GJB. The protein truncation test: a review. Hum Mutat (in press).
33. Hentze MW, Kulozik AE. A perfect message: RNA surveillance and nonsense-mediated decay. Cell 1999; 96: 307-10.
34. Monforte JA, Becker CH. High-throughput DNA analysis by time-of-flight mass spectrometry. Nat Med 1997; 3: 360-62.
35. Lipshutz RJ, Fodor SP, Gingeras TR, Lockhart DJ. High density synthetic oligonucleotide arrays. Nat Genet 1999; 21: 20-24.
36. Cronin MT, Fucini RV, Kim SM, et al. Cystic fibrosis mutation detection by hybridization to light-generated DNA probe arrays. Hum Mutat 1996; 7: 244-55.
37. Hacia JG. Resequencing and mutational analysis using oligonucleotide microarrays. Nat Genet 1999; 21: 42-47.
38. Hacia JG, Brody LC, Chee MS, et al. Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two-colour fluorescence analysis. Nat Genet 1996; 14: 441-47.
39. Saiki RK, Bugawan TL, horn GT, Mullis KB, Erlich HA. Analysis of enzymatically amplified Beta-globin and HLA-DQ alpha DNA with allele-specific oligonucleotide probes. Nature 1986; 324: 163-66.
40. Landegren U, Kaiser R, Sanders J, et al. A ligase-mediated gene detection technique. Science 1988; 241: 1077-80.
41. Nilsson M, Krejci K, Koch J, Kwiatkowski M, Gustavsson P, Landegren U. Padlock probes reveal single-nucleotide differences, parent of origin and in situ distribution of centrormeric sequences in human chromosomes 13 and 21. Nat Genet 1997; 16: 252-55.
42. Lizardi PM, Huang X, Zhu Z, Bray-Ward P, Thomas DC, Ward DC. Mutation detection and single-molecule counting using isothermal rolling-circle amplification. Nat Genet 1998; 19: 225-232.
43. Pastinen T, Krug A, Metspalu A, Peltonen L, Syvnen AC. Minisequencing: a specific tool for DNA analysis and diagnostics on oligonucleotide arrays. Genome Res 1997; 7: 606-14.
44. Syvnen A-C. From gels to chips: "minisequencing" primer extension for analysis of point mutations and single-nucleotide polymorphisms. Hum Mutat 1999; 13: 1-10.
45. Holland PM, Abramson RD, Watson R, Gelfand DH. Detection of specific polymerase chain reaction product by utilizing the 5'-3' exonulease activity of Thermus aquaticus DNA polymerase. Proc Natl Acad Sci USA 1991; 88: 7276-80.
46. Heid CA, Stevens J, Livak KJ, Williams PM. Real time quantitative PCR. Genome Res 1996; 6: 986-94.
47. Caplin BE, Rasmussen RP, Barnard PS, Wittwer CT. The most direct way to monitor PCR amplification for quantitation an mutation detection. Biochemica 1999; 1: 5-8.
48. Tyagi S, Bratu DP, Kramer FR. Multicolor molecular beacons for allele discrimination. Nat Biotechnol 1998; 16: 49-53.
49. Lee JE, Hollenberg SM, Snider L, Turner DL, Lipnick N, Weintraub H. Conversion of Xenopus ectoderm into neurons by NeuroD, a basic helix-loop-helix protein. Science 1995; 268: 836-44.