Molecular diagnostics

Journal of Molecular Medicine

Volumn 75, Issue 10, 1997, Pages 728-744

  Wagener, Christoph ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

Aging; Ecogenetics; Genotype; Oncology; Phenotype

Indexed keywords

MESSENGER RNA;

AGING; CANCER DIAGNOSIS; DIAGNOSTIC VALUE; DIFFERENTIAL DIAGNOSIS; DNA POLYMORPHISM; EARLY DIAGNOSIS; GENE SEQUENCE; GENOTYPE; HUMAN; MOLECULAR GENETICS; ONCOLOGY; PHENOTYPE; POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; REVIEW;

EID: 0030827683     PISSN: 09462716     EISSN: None     Source Type: Journal    
DOI: 10.1007/s001090050159     Document Type: Review

References (85)

1. Aguzzi A, Weissman C (1996) A suspicious signature. Nature 383:666-667
2. Allen JB, Walberg MW, Edwards MC, Elledge SJ (1995) Finding prospective partners in the library: the two-hybrid system and phage display find a match. Trends Biochem Sci 20:511-516
3. Armitage P, Doll R (1957) A two-stage theory of carcinogenesis in relation to the age distribution of human cancer. Br J Cancer 9:161-169
4. Attie T, Till M, Pelet A, Amiel J, Edery P, Boutrand L, Munnich A, Lyonnet S (1995) Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease. Hum Mol Genet 4:2407-2409
5. Barbacid M (1987) ras genes. Ann Rev Biochem 56:779-827
6. Beaudet AL, Scriver CR, Sly WS, Valle D, Cooper DN, McKusick VA, Schmidke J (1989) Genetics and biochemistry of variant human phenotype. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease. McGraw-Hill, New York, pp 3-53
7. Bellacosa A, Genuardi M, Anti M, Viel A, Ponz de Leon M (1996) Hereditary nonpolyposis colorectal cancer: review of clinical, molecular genetics, and counseling aspects. Am J Med Genet 62:353-364
8. Bonn D (1996) RET oncogene puzzle in Chernobyl thyroid tumours. Lancet 347:1176
9. Boolbol SK, Dannenberg AJ, Chadburn A, Martucci C, Guo XJ, Ramonetti JT, Abreu Goris M, Newmark HL, Lipkin ML, DeCosse JJ, Bertagnolli MM (1996) Cyclooxygenase-2 over-expression and tumor formation are blocked by sulindac in a murine model of familial adenomatous polyposis. Cancer Res 56:2556-2560
10. Brusilow SW, Horwich AL (1989) Urea cycle enzymes. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease. McGraw-Hill, New York, pp629-663
11. Cao A, Pirastu M, Rosatelli C (1990) Prenatal diagnosis of inherited hemoglobinopathies. Haematologica 75 [Suppl] 5:169-177
12. Caskey CT, Pizzuti A, Fu YH, Fenwick RGJ, Nelson DL (1992) Triplet repeat mutations in human disease. Science 256:784-789
13. Chen J, Viola MV (1991) A method to detect ras point mutations in small subpopulations of cells. Anal Biochem 195:51-56
14. Chen XQ, Stroun M, Magnenat JL, Nicod LP, Kurt AM, Lyautey J, Lederrey C, Anker P (1996) Microsatellite alterations in plasma DNA of small cell lung cancer patients. Nat Med 2:1033-1035
15. Cleaver JE, Kraemer KH (1989) Xeroderma pigmentosum. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease. McGraw-Hill, New York, pp 2949-2971
16. Colledge WH, Abella BS, Southern KW, Ratcliff R, Jiang C, Cheng SH, MacVinish LJ, Anderson JR, Cuthbert AW, Evans MJ (1995) Generation and characterization of a delta F508 cystic fibrosis mouse model. Nat Genet 10:445-452
17. Collinge J, Sidle KCL, Meads J, Ironside J, Hill AF (1996) Molecular analysis of prion strain variation and the aetiology of 'new variant' CJD. Nature 383:685-690
18. Cordell HJ, Todd JA (1995) Multifactorial inheritance in type 1 diabetes. Trends Genet 11:499-504
19. Dean M, Carrington M, Winkler C, Huttley GA, Smith MW, Allikmets R, Goedert JJ, Buchbinder SP, Vittinghoff E, Gomperts E, Donfield S, Vlahov D, Kaslow R, Saah A, Rinaldo C, Detels R, O'Brien SJ (1996) Genetic restriction of HIV-1 infection and progression to AIDS by a deletion allele of the CKR5 structural gene. Hemophilia Growth and Development Study, Multicenter AIDS Cohort Study, Multicenter Hemophilia Cohort Study, San Francisco City Cohort, ALIVE Study. Science 273:1856-1862
20. Denissenko MF, Pao A, Tang M-s, Pfeifer GP (1996) Preferential formation of benzo[a]pyrene adducts at lung cancer mutational hotspots in P53. Science 274:430-432
21. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morissette J, Weissenbach J (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
22. Donehower LA, Harvey M, Slagle BL, McArthur MJ, Montgomery CAJ, Butel JS, Bradley A (1992) Mice deficient for p53 are developmentally normal but susceptible to spontaneous tumours. Nature 356:215-221
23. Drexler HG, Borkhardt A, Janssen JW (1995) Detection of chromosomal translocations in leukemia-lymphoma cells by polymerase chain reaction. Leuk Lymphoma 19:359-380
24. Edery P, Attie T, Amiel J, Pelet A, Eng C, Hofstra RM, Martelli H, Bidaud C, Munnich A, Lyonnet S (1996) Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet 12:442-444
25. Estivill X (1996) Complexity in a monogenic disease. Nat Genet 12:348-350
26. Evans DA (1989) N-Acetyltransferase. Pharmacol Ther 42:157-234
27. Garrod AE (1902) The incidence of alkaptonuria: a study in chemical individuality. Lancet 2:1616-1620
28. Geisel J, Holzem G, Schleifenbaum T, Oette K (1996) Screening for mutations in the LDL receptor gene and apolipoprotein B-100 gene in 218 patients with severe hypercholesterolemia. Z Gastroenterol 34 Suppl 3:14-15
29. Gelehrter TD, Collins FS (1990) Principles of medical genetics. Williams and Wilkins, Baltimore
30. Gerhard M, Juhl H, Kalthoff H, Schreiber HW, Wagener C, Neumaier M (1994) Specific detection of carcinoembryonic antigen-expressing tumor cells in bone marrow aspirates by polymerase chain reaction. J Clin Oncol 12:725-729
31. Gibson QH (1948) The reduction of methaemoglobin in red blood cells and studies on the cause of idiopathic methaemoglobinaemia. Biochem J 42:13
32. Giovannucci E, Willett WC (1994) Dietary factors and risk of colon cancer. Ann Med 26:443-452
33. Günthert U, Stauder A, Mayer B, Terpe H-J, Finke E, Friedrichs K (1995) Are CD44 variant isoforms involved in human tumour progression? In: Hart I, Hogg N (eds) Cell adhesion and cancer. Cold Spring Harbor Laboratory, Cold Spring Harbor, pp 19-42
34. Hacia JG, Brody LC, Chee MS, Fodor SPA, Collins FS (1996) Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two-colour fluorescence analysis. Nat Genet 14:441-447
35. Hayashi N, Ito I, Yanagisawa A, Kato Y, Nakamori S, Imaoka S, Watanabe H, Ogawa M, Nakamura Y (1995) Genetic diagnosis of lymph-node metastasis in colorectal cancer. Lancet 345:1257-1259
36. Hofstra RM, Osinga J, Tan Sindhunata G, Wu Y, Kamsteeg EJ, Stulp RP, van Ravenswaaij Arts C, Majoor Krakauer D, Angrist M, Chakravarti A, Meijers C, Buys CH (1996) A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nat Genet 12:445-447
37. Hsieh J-T, Luo W, Song W, Wang Y, Kleinerman DI, Van NT, Lin S-H (1995) Tumor suppressive role of an androgen-regulated epithelial cell adhesion molecule (C-CAM) in prostate carcinoma cell revealed by sense and antisense approaches. Cancer Res 55:190-197
38. Ingram VM (1956) A specific chemical difference between the globins of normal human and sickle cell anaemia hemoglobin. Nature 178:792
39. Jazwinski SM (1996) Longevity, genes, and aging. Science 273:54-59
40. Kahn CR (1994) Banting Lecture. Insulin action, diabetogenes, and the cause of type II diabetes. Diabetes 43:1066-1084
41. Kahn P (1996) Coming to grips with genes and risk. Science 274:496-498
42. Keller H (1986) Klinisch-chemische Labordiagnostik für die Praxis. Analyse, Befund, Interpretation. Thieme, Stuttgart
43. Kinzler KW, Vogelstein B (1996) Lessons from hereditary colorectal cancer. Cell 87:159-170
44. Klugbauer S, Lengfelder E, Demidchik EP, Rabes HM (1995) High prevalence of RET rearrangement in thyroid tumors of children from Belarus after the Chernobyl reactor accident. Oncogene 11:2459-2467
45. Kunath T, Ordonez Garcia C, Turbide C, Beauchemin N (1995) Inhibition of colonic tumor cell growth by biliary glycoprotein. Oncogene 11:2375-2382
46. Lipshutz RJ, Morris D, Chee M, Hubbell E, Kozal MJ, Shah N, Shen N, Yang R, Fodor SP (1995) Using oligonucleotide probe arrays to access genetic diversity. Biotechniques 19:442-441
47. Lockridge O (1990) Genetic variants of human serum cholinesterase influence metabolism of the muscle relaxant succinylcholine. Pharmacol Ther 47:35-60
48. Lorber B (1996) Are all diseases infectious? Ann Intern Med 125:844-851
49. Lukacs GL, Chang XB, Bear C, Kartner N, Mohamed A, Riordan JR, Grinstein S (1993) The delta F508 mutation decreases the stability of cystic fibrosis transmembrane conductance regulator in the plasma membrane. Determination of functional half-lives on transfected cells. J Biol Chem 268:21592-21598
50. MacPhee M, Chepenik KP, Liddell RA, Nelson KK, Siracusa LD, Buchberg AM (1995) The secretory phospholipase A2 gene is a candidate for the Mom1 locus, a major modifier of ApcMin-induced intestinal neoplasia. Cell 81:957-966
51. Mao L, Lee DJ, Tockman MS, Erozan YS, Askin F, Sidransky D (1994) Microsatellite alterations as clonal markers for the detection of human cancer. Proc Natl Acad Sci USA 91:9871-9875
52. Mao L, Schoenberg MP, Scicchitano M, Erozan YS, Merlo A, Schwab D, Sidransky D (1996) Molecular detection of primary bladder cancer by microsatellite analysis. Science 271:659-662
53. Mennie ME, Gilfillan A, Compton M, Curtis L, Liston WA, Pullen I, Whyte DA, Brock DJ (1992) Prenatal screening for cystic fibrosis. Lancet 340:214-216
54. Mennie ME, Liston WA, Brock DJ (1992) Prenatal cystic fibrosis carrier testing: designing an information leaflet to meet the specific needs of the target population. J Med Genet 29:308-312
55. Morel Y, Miller WL (1991) Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Adv Hum Genet 20:1-68
56. Mori M, Miromi K, Inoue H, Barnard GF, Tsuji K, Nanbara S, Ueo H, Akiyoshi T (1995) Detection of cancer micrometastases in lymph nodes by reverse transcriptase-polymerase chain reaction. Cancer Res 55:3417-3420
57. Nawroz H, Koch W, Anker P, Stroun M, Sidransky D (1996) Microsatellite alterations in serum DNA of head and neck cancer patients. Nat Med 2:1035-1037
58. Neumaier M, Paululat S, Chan A, Matthaes P, Wagener C (1993) Biliary glycoprotein, a potential human cell adhesion molecule, is down-regulated in colorectal carcinomas. Proc Natl Acad Sci USA 90:10744-10748
59. Nollau P, Wagener C (1996) Methods for the detection of point mutations: performance and quality assessment. Clin Chem (in press)
60. Nollau P, Moser C, Wagener C (1996) Isolation of DNA from stool and bodily fluids for PCR amplification. Biotechniques 20:784-788
61. Okano Y, Eisensmith RC, Guttler F, Lichter Konecki U, Konecki DS, Trefz FK, Dasovich M, Wang T, Henriksen K, Lou H et al (1991) Molecular basis of phenotypic heterogeneity in phenylketonuria. N Engl J Med 324:1232-1238
62. Pasini B, Borrello MG, Greco A, Bongarzone I, Luo Y, Mondellini P, Alberti L, Miranda C, Arighi E, Bocciardi R, Seri S, Barone V, Radice MT, Romeo G, Pieroti MA (1995) Loss of function effect of RET mutations causing Hirschsprung disease. Nat Genet 10:35-40
63. Pauling E, Itano HA, Singer SJ, Wells IC (1949) Sickle cell anemia: a molecular disease. Science 110:543
64. Pelkey TJ, Frierson HF Jr, Bruns DE (1996) Molecular and immunological detection of circulating tumor cells and micrometastases from solid tumors. Clin Chem 42:1369-1381
65. Samson M, Libert F, Doranz BJ, Rucker J, Liesnard C, Farber CM, Saragosti S, Lapoumeroulie C, Cognaux J, Forceille C, Muyldermans G, Verhofstede C, Burtonboy G, Georges M, Imai T, Rana S, Yi Y, Smyth RJ, Collman RG, Doms RW, Vassart G, Parmentier M (1996) Resistance to HIV-1 infection in Caucasian individuals bearing mutant alleles of the CCR-5 chemokine receptor gene. Nature 382:722-725
66. Shiloh S, Saxe L (1989) Perception of risk in genetic counseling. Psychology and health. Psychol Health 3:45-61
67. Sidransky D, Von Eschenbach A, Tsai YC, Jones P, Summerhayes I, Marshall F, Paul M, Green P, Hamilton SR, Frost P et al (1991) Identification of p53 gene mutations in bladder cancers and urine samples. Science 252:706-709
68. Sidransky D, Tokino T, Hamilton SR, Kinzler KW, Levin B, Frost P, Vogelstein B (1992) Identification of ras oncogene mutations in the stool of patients with curable colorectal tumors. Science 256:102-105
69. Smith B, Selby P, Southgate J, Pittman K, Bradley C, Blair GE (1991) Detection of melanoma cells in peripheral blood by means of reverse transcriptase and polymerase chain reaction. Lancet 338:1227-1229
70. Song Z, Casolaro V, Chen R, Georas SN, Monos D, Ono SJ (1996) Polymorphic nucleotides within the human IL-4 promoter that mediate overexpression of the gene. J Immunol 156:424-429
71. Sutherland GR, Richards RI (1992) Anticipation legitimized: unstable DNA to rescue. Amer J Hum Genet 51:7-9
72. Todd JA (1995) Genetic analysis of type 1 diabetes using whole genome approaches. Proc Natl Acad Sci USA 92:8560-8565
73. Tsui L-P (1992) The spectrum of cystic fibrosis mutations. Trends Genet 8:392-398
74. Vandenbroucke JP, Koster T, Briet E, Reitsma PH, Bertina RM, Rosendaal FR (1994) Increased risk of venous thrombosis in oral-contraceptive users who are carriers of factor V Leiden mutation. Lancet 344:1453-1457
75. Van Herwerden L, Harrap SB, Wong ZY, Abramson MJ, Kutin JJ, Forbes AB, Raven J, Lanigan A, Walters EH (1995) Linkage of high-affinity IgE receptor gene with bronchial hyperreactivity, even in absence of atopy. Lancet 346:1262-1265
76. van Heyningen V (1994) Genetics. One gene-four syndromes. Nature 367:319-320
77. Van Laethem JL, Vertongen P, Deviere J, Van Rampelbergh J, Rickaert F, Cremer M, Robberecht P (1995) Detection of c-Ki-ras gene codon 12 mutations from pancreatic duct brushings in the diagnosis of pancreatic tumours. Gut 36:781-787
78. Velculescu VE, El Deiry WS (1996) Biological and clinical importance of the p53 tumor suppressor gene. Clin Chem 42:858-868
79. Villanueva A, Reyes G, Cuatrecasas M, Martinez A, Erill N, Lerma E, Faire A, Lluis F, Capella G (1996) Diagnostic utility of K-ras mutations in fine-needle aspirates of pancreatic masses. Gastroenterology 110:1587-1594
80. Wagener C (1996) Einführung in die molekulare Onkologie. Thieme, Stuttgart
81. Wagener C, Epplen JT, Erlich H, Peretz H, Vihko P (1994) Molecular biology techniques in the diagnosis of monogenic disease. Clin Chim Acta 225:835-850
82. Wilfond BS, Fost N (1992) The cystic fibrosis gene: medical and social implications for heterozygote detection. J Am Med Assoc 263:2777-2783
83. Williamson B (1996) Towards non-invasive prenatal diagnosis. Nat Genet 14:239-240
84. Wucherpfennig KW, Strominger JL (1995) Selective binding of self peptides to disease-associated major histocompatibility complex (MHC) molecules: a mechanism for MHC-linked susceptibility to human autoimmune diseases. J Exp Med 181:1597-1601
85. Wynshaw-Boris A (1996) Model mice and human disease. Nat Genet 13:259-260