Τόμος 7 (1993) – Τεύχος 1 – Άρθρο 1 – Επιθεώρηση Κλινικής Φαρμακολογίας και Φαρμακοκινητικής-Διεθνής Έκδοση – Volume 7 (1993) – Issue 1 – Article 1 – Epitheorese Klinikes Farmakologias και Farmakokinetikes-International Edition

 

Title The polymerase chain reaction in medical applications
Authors Alexander Haliassos1, Triantafillos Liloglou1,2, Mary Ergazaki1,2 and Demetrios A. Spandidos1,2

1. Institute of Biological Research and Biotechnology, The National Hellenic Research Foundation, GREECE

2. Medical School, University of Crete, Heraklion, GREECE

Citation Haliassos, A., Liloglou, T., Ergazaki, M., Spandidos, D.A.: The polymerase chain reaction in medical applications, Epitheorese Klin. Farmakol. Farmakokinet. 7(1): 7-16 (1993)
Publication Date Accepted for publication: 2 December 1992
Full Text Language English
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Keywords Polymerase chain reaction, molecular Biology.
Other Terms review article
Summary The Polymerase Chain Reaction (PCR) has dramatically altered how molecular studies are conducted and since the original publication of this technique, in 1985, there has been an explosion of reports on its use in medicine and biomedical research. In this article we will summarize our knowledge on the use of the PCR in medical and forensic applications. We will discuss its value in the characterization of genetic defects, HLA typing, detecting microorganisms, identifying activated oncogenes and in the characterization of leukemias and lymphomas and will conclude with the precautions which must be taken in order to avoid contaminations during the various steps of this technique.
References 1.         Saiki, R. K., Scharf, S., Faloona, F., Mullis, K. B., Horn, G. T., Erlich, H. A., Arnheim, N.: Enzymatic amplification of β-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science 230: 1350-1354 (1985)

2.         Haliassos, A., Chomel, J.C., Grandjouan, S., Kaplan, J.C. and Kitzis, A. Activation of ras oncogenes during colonic carcinogenesis: detection by the polymerase chain reaction. In: Ras oncogenes (D.A. Spandidos editor), p.p. 217-223, Plenum Publishing Corporation, New York, (1989)

3.         Lench, N., Stanier, P., Williamson, R.: Simple non-in- vasive method to obtain DNA for gene analysis. Lancet 1: 1356-1358 (1988)

4.         Higuchi, R., von Beroldingen, C.H., Sensabaugh, G.F., Elrich, H.A.: DNA typing from single hairs. Nature 332: 543-546 (1988)

5.         Cresenzi, M., Seto, M., Herzig, G.P., Weiss, P.D., Griffith, R.C., Korsmeyer, S.J.: Thermostable DNA polymerase chain amplification of t(14; 18) chromosome breakpoints and detection of minimal residual disease. Proc. Natl. Acad. Sci. USA 85: 4869-4873 (1988)

6.         Li, H.H., Gyllensten, U.B., Cui, X.F., Saiki, R.K., Erlich, H.A., Arnheim, N.: Amplification and analysis of DNA sequences in single human sperm and diploid cells. Nature 335: 414-417 (1988)

7.         Paabo, S., Giffoerd, J.A., Wilson, A.C.: Mitochondrial DNA sequences from a 7000-year-old brain. Nucleic Acids Res. 16: 9775-9787 (1988)

8.         Haliassos, A., Chomel, J.C., Grandjouan, S., Kaplan, J.C. and Kitzis, A.: Detection of minority point mutations by modified P.C.R. technique: A new approach for a sensitive diagnosis of tumor-progression markers. Nucleic Acids Res. 17 (20): 8093-8100 (1989)

9.         Haliassos, A., Chomel, J.C., Tesson, L., Baudis, M., Kruh, J., Kaplan, J.C. and Kitzis, A.: Modification of enzymatically amplified DNA for the detection of point mutations. Nucleic Acids Res. 17 (9): 3606 (1989)

10.       Persing, D.H., Teleford, S.R., Rys, P.N., Dodge, D.E., White, T.S., Malawista, S.E., Spielman, A.: Detection of Borrelia Burgdorferi DNA in Museum Specimens of ixodes dammini ticks. Science 249: 1420 (1990)

11.        Kawlor, D. A., Dickel, C.D., Hawswirth, W., Parhom, P.: Ancient HLA genes from 7500 year-old archaeological remains. Nature 349: 785 (1991)

12.       Antonarakis, S.E.: Diagnosis of genetic disorders at the DNA level. N. Engl. J. Med. 320: 153-163 (1989)

13.       Loche, M., Mach, B.: Identification of HIV-infected seronegative individuals by a direct diagnosis test based on hybridization to amplified viral DNA. Lancet 2: 418-421 (1988)

14.       Rayfield, M., De Cock, K. Heyward, W. et al.: Mixed human immunodeficiency virus (HIV) infection in an individual demonstration of both HIV type 1 and type 2 proviral sequences by using polymerase chain reaction. J. Infect. Dis. 158: 1170-1176 (1988)

15.       Bhavagati, S., Elrich, G., Kula, R.W., et al.: Detection of human T-cell lymphoma/leukemia virus type 1 DNA and antigen in spinal fluid and blood of patients with chronic progressive myelopathy. N. Engl. J. Med. 318: 1141-1147 (1988)

16.       Lee, H., Swanson, P., Shorty, V.S., Zack, J.A., Rosenblatt, D.J., Chen, I.S.: High rate of HTLV-II infection in seropositive i.v. drug abusers in New Orleans. Science 244: 471-475 (1989)

17.       TeDesch, M.V., Yoshida, F.T., Siwa, M. and Fenstone, S.M.: detection of hepatitis A viral genome in stool samples of patients with relapsed hepatitis A by the PCR. Mem. Int. Oswalso Cruz 84: 429-431 (1988)

18.       Haliassos, A., Arvannitis, D., Parliaras, J. and Spandidos, D.A.: Detection of Hepatitis B Virus DNA at high frequency in liver neoplasias using a PCR technique. Int. J. Oncology 1: 125-128 (1992)

19.       Kato, N., Yokosuka, O., Omata, M., Hosoda, K. and Ohto, M.: Detection of hepatitis C-virus ribonucleic acid in the serum by amplification with PCR. J. Clin. Invest. 86: 1764-1767 (1990)

20.      Shibata, D.K., Arnheim, N., Martin, W.J.: Detection of human papilloma virus in paraffin-embedded tissue using the polymerase chain reaction. J. Exp. Med. 167: 225-230 (1988)

21.       Cao, M., Xiao, X., Egbert, B., Darragh, T.M., Yen, T.S.: Rapid detection of cutaneous herpes simplex virus infection with the polymerase chain reaction. J. Invest. Dermatol. 92: 391-392 (1989)

22.       Bernet, C., Garret, M., de-Barbeyrac, B., Bebear, C., Bonnet, J.: Detection of Mycoplasma pneumonia by using the polymerase chain reaction. J. Clin. Microbiol 27: 2492-2496 (1989)

23.       Brisson-Noel, A., Gicquel, B.. Lecossier, D., Levy-Frebault, V., Nassif, X., Hance, A.J.: Rapid diagnosis of tuberculosis by amplification of mycobacterial DNA in clinical samples. Lancet 2: 1069-1071 (1989)

24.       Starnbach, M.N., Falkow, S., Tompkins, L.S.: Species- specific detection of Legionella pneumophila in water by DNA amplification and hybridization. J. Clin. Microbiol. 27: 1257-1261 (1989)

25.       Burg, J.L., Grover, C.M., Pouletty, P., Boothroyd, J.C.: Direct and sensitive detection of a pathogenic protozoan, Toxoplasma gondii, by polymerase chain reaction. J. Clin. Microbiol. 27: 1787-1892 (1989)

26.       Moser. D.R., Kirchhoff, L.V., Donelson, J.E.: Detection of Trypanosoma cruzi by DNA amplification using the polyerase chain reaction. J. Clin. Microbiol. 27: 1477- 1482 (1989)

27.       Dutilh, B., Bebear, C., Rodriguez, P., Verkins, A., Bonnet, J., Garret, M.: Specific amplification of DNA sequence common to all Chlamydia trachomatis serovariants using the polymerase chain reaction. Res. Microbiol. 140: 1-16 (1989)

28.      Olive, D.M.: Detection of enterotoxigenic Escherichia coli after polymerase chain reaction amplification with a thermostable DNA polymerase. J. Clin. Microbiol. 27: 261-265 (1989)

29.       Wilson, K.H., Blitchington, R., Shah, P. et al.: Probe directed at a segment of Rickettsii rRNA amplified with polymerase chain reaction. J. Clin. Microbiol. 27: 1692-2696 (1989)

30.      Haseltine, W.A.: Silent HIV infections. N. Engl. J. Med. 320: 1442-1446 (1989).

31.       Loche, M., Mach, B.: Identification of HIV infected seronegative individuals by a direct diagnostic test based on hybridization to amplified viral DNA. Lancet 2: 418-421 (1988)

32.       Cai, S.P., Zhang, J.Z., Huang, D.H., Wang, Z.X., Kan, Y.W.: A simple approach to prenatal diagnosis of beta-thalassemia in a geographic area where multiple mutations occur. Blood 71: 1357-1360 (1988)

33.       Hsia, Y.E.. Ford, C.A., Shapiro, L.J., Hunt, J.A.. Ching, N.S.: Molecular screening for haemoglobin constant spring. Lancet 1: 988-991 (1989)

34.       Saiki, R.K., Chang, C.-A., Levenson, C.H., et al.: Diangosis of sickle cell anemia and β-thalassemia with enzymatically amplified DNA and non radioactive allele-specific oligonucleotide probes. N. Engl. J. Med. 319: 537-541 (1988)

35.       Kogan, S.C., Doherety, M., Gitschier, J.: An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences: application to Hemophilia A. N. Engl. J. Med. 317: 985-990 (1987)

36.       Denton, P.H., Fowlkes, D.M., Lord, S.T., Reisner, H.M.: Hemophilia B Durham a mutation in the first EGF-like domain of factor IX that is characterized by polymerase chain reaction. Blood 72: 1407-1411 (1988)

37.       Winship, P.R., Rees, D.J., Alkan, M.: Detection of polymorphisms at cytosine phosphoguanidine dinucleotides and diagnosis of haemophilia B carriers. Lancet 50. 1: 631-634 (1989)

38. Hirono, A., Beutler, E.: Molecular cloning and nucleotide sequence of cDNA for human glucose 6 phosphate dehydrogenase variant A(-). Proc. Natl. Acad. Sci. USA 51. 85: 3951-3954 (1988)

39. Sahr, K.E., Tobe, T., Scarpa, A., et al.: Sequence and exon-intron organization of the DNA encoding the alpha 52. I domain of human spectrin. Application to the study of mutations causing hereditary elliptocytosis. J. Clin. Invest. 84: 1243-1252 (1989)

40. Collins, D.R., Knott, J.T., Pease, R.J., et al.: Truncated 53. Variants of apolipoprotein B cause hypobetalipoprotei naemia. Nucleic Acids Res. 16: 8361-8375 (1988)

41. Tennyson, G.E., Sabatos, C.A., Eggerman, T.L., Brewere, H.B. Jr.: Characterization of single base substitutions in edited apolipoprotein B transcripts. 54. Nucleic Acids Res. 17: 691-698 (1989)

42. The Cystic Fibrosis Analysis Consortium. Worldwide Survey of DF508 mutation. Report from the Cystic Fibrosis Analysis Consortium. Am. J. Hum. Genet. 47: 354-359 (1990)

43. Chamberlain, J.S., Gibbs, R.A., Ranier, J.E., Nguyen, P.N., Caskey, C.T.: Deletion screening of the Duchenne muscular dystrophy loci via multiplex DNA amplification. Nucleic Acids Res. 16: 11141-11156 (1988)

44. Well, D., D-Alessio, M., Ramitez, F., et al.: A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type Vii. EM BO J 8: 1705-1710 (1989)

45. Leitersdorf, E., Hobbs, H.H., Fourie, A.M., Jacobs, M., 57. van der Westhuyzen, D.R., Coetzee, G.A.: Deletion in the first cysteine-rich repeat of low density lipoprotein receptor impairs its transport but not lipoprotein binding in fibroblasts from a subject with familial hypercholesterolaemia. Proc. Natl. Acad. Sci. USA 85: 7912-1916 (1988)

46. Cross, N.C., Tolan, D.R., Cox, T.M.: Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missence mutation. Cell 53: 881-885 (1988)

47. McIntosh, I., Curtis. A., Millan, F.A., Brock, D.J.: Prenatal exclusion testing for Huntington disease using the polymerase chain reaction. Am. J. Med. Genet. 32: 274-276 (1989)

48. Gibbs, R.A., Nguyen, P.N., McBride, L.J., Koepf, S.M., 61. Caskey, C.T.: Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. Proc. Natl. Acad. Sci. USA 86: 1919-1923 (1989)

49. Zeviani, M., Servidei, S., Gellera, C., Bertini, E., Di- Mauros, SSS., Didomato, S.: An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D loop region. Nature 339: 309-311 (1989).

50. Poulton, J., Deadman, M.E., Gardiner, R.M.: Tandem direct duplication of mitochondrial DNA in mitochondrial myopathy analysis of nucleotide sequence and tissue distribution. Nucleic Acids Res. 17: 10223-10229 (1989)

51. Patterson, E., Smiley, E., Bonadio, J.: RNA sequence analysis of a perinatal lethal osteogenesis imperfect mutation. J. Biol. Chem. 264: 10083-10087 (1989)

52. Dilenna, G.A., Huang, W.-M., Woo, S.L.: Screening for phenylketonuria mutations by DNA amplification with the polymerase chain reaction. Lancet 1: 497-499 (1988)

53. Grandchamp, B., Picat, C., de-Rooij, F., et al.: A point mutation G-A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria. Nucleic Acids Res. 17: 66237-6649 (1989)

54. Endo, H., Hasegawa, Κ., Narisawa, Κ., Tada, Κ., Kagawa, Y., Ohta, S.: Defective gene in lactic acidosis: abnormal pyruvate dehydrogenease E1 alpha-subunit caused by a frame shift. Am. J. Hum. Genet. 44: 358-364 (1989)

55. Myerowitz, R.: Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group. Proc. Natl. Acad. Sci. USA 86: 3723-3727 (1989)

56. Paw, B.H., Kabach, M.M., Neufeld, E.F.: Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase. Proc. Natl. Acad. Sci. USA 86: 2413-2417 (1989).

57. Ginsburg, D., Konkle, B.A., Gill, J.C., et al.: Molecular basis of human von Willebrand disease: analysis of platelet von Willebrand factor mRNA. Proc. Natl. Acad. Sci. USA 86: 3723-3727 (1989)

58. Todd, J.A., Bell, J.I., McDevitt, H.O.: HLA-DQp gene contributes to susceptibility and resistance to insulin-dependent diabetes mellitus. Nature 329: 599-604 (1987)

59. Sinha, A.A., Brautbar, C., Szafer, F., et al.: A newly characterized HLA-DQp allele associated with pemphigus vulgaris. Science 239: 1026-1029 (1988)

60. Scharf, S.J., Friedmann, M., Brautbar, C., et al.: HLA class II allelic variation and susceptibility to pemphigus vulgaris. Proc. Natl. Acad. Sci. USA 85: 3504-3508 (1988)

61. Oksenberg, J.R., Sherritt, M., Begovich, A.B., et al.: T-cell receptor Va and Ca alleles associated with multiple sclerosis and myasthenia gravis. Proc. Natl. Acad. Sci. USA 86: 988-992 (1989)

62. Stetlet-Stevenson, M., Raffeld, M., Cohen, P., Cossman, J.: Detection of occult follicular lymphoma by specific DNA amplification. Blood 72: 1822-1825 (1988)

63. de-Jong, D., Voerdijk, B.M., Van-Ommen, G.J., Kluin- Nelemans, J.C., Beverstock, G.C., Kluin, P.M.: Translocation t(14:18) in B cell lymphomas as a cause for defective immunoglobulin production. J. Exp. Med. 169: 613-124 (1989)

64.       Lee, M.S., Chang, K.S., Freireich, E.J., et al.: Detection of minimal residual bcr-abl transcripts by a modified PCR. Blood 72: 893-897 (1988)

65.       Haliassos, A., Mossafa, P., Chomel, J.C., Grandjouan, S., Chapuis, Y., Kaplan, J.C. and Kitzis, A.: Détection à des fins diagnostiques et pronostiques d’anomalies spécifiques de certains oncogènes dans des tumeurs solides et des leucémies. In: Prospective Biology, p.p. 49-54, John Libbey, Eurotext, Paris, 1989

66.       Hermans, A., Gow, Κ., Seller, L., et al.: bcr-abl oncogene activation in Philadelphia chromosome positive acute lymphoblastic leukaemia. Leukaemia 2: 628- 633 (1988)

67.       Smit, VTHBM., Boot, A.J.M., Smits, A.M.M., Fleuren, G.J., Gonelisse, C.J. and Bos, J.L.: K-ras codon 12 mutations occur very frequently in pancreatic adenocarcinomas. Nucleic. Acids. Res. 16: 7773-7782 (1988)

68.      Lemoine, N.R., Mayall, E.S., Wyllie, F.S., Williams, D.E., Grouns, M., Stringer, B. and Wynford-Thomas, D.: High frequency of ras oncogene activation in all stages of human thyroid tumorigenesis. Oncogene 4: 159-164 (1989)

69.       Chomel, J.C., Grandjouan, S., Spandidos, D.A., Tulliez, M., Bognel, C., Kitzis, A., Kaplan, J.C. and Haliassos, A.: Search for correlations between K-ras oncogene activation and pathology in Sporadic and Familial Colonic Adenomas. In: The super-family of ras related genes. (D.A. Spandidos editor) p.p. 153-161 Plenum Publishing Corporation, New York, USA, 1992.

70.       Bos, J.L.: Ras oncogenes in human cancer: a review. Cancer Res. 49: 4682-4689 (1989).

71.       Farr, C.J., Saiki, R.K., Erlich, H.A., McCormick, F. and Marshall, C.J.: Analysis of ras gene mutations in acute myeloid leukemia by PCR and oligonucleotide probes. Proc. Natl. Acad. Sci. USA 85: 1629-1633 (1988).

72.       Melani, C., Haliassos, A., Chomel, J.C., Miglino, M., Ferraris, A.M., Gaetani, G.F., Kaplan, J.C., and Kitzis, A.: Ras activation in myelodysplastic syndromes: clinical and molecular study of the chronic phase of the disease. Br. J. Haematol. 74: 408-413 (1990)

73.       Nigro, S.M., Baker, S.J., Preisinger, A.C., Jessup, J.M., Hostetter, R., Cleary, Κ., Bigner, S.H., Davidson, N., Baylin, S., Devilee, P., Glover, T., Collins, F.S., Weston, A., Modali, R., Harris, C.C. and Vogelstein, B.: Mutations in the p53 gene occur in diverse human tumor types. Nature 342: 705-708 (1989)

74.       Sidransky, D., Von Escheunbach, A., Tsai, Y.C., Jones, P., Summerhaues, I., Marshall, F., Meera, P., Green, P., Hamilton, S.R., Frost, P. and Vogelstein, B.: Identification of p53 gene mutations in bladder cancers and urine samples. Science 245: 706-709 (1991)

75.       Horowitz, J.M., Yandell, D.W., Park, S.H., Canning, S., Whyte, P., Buchkovich, Κ., Harlow, E., Weinberg, K. and Dryja, T.P.: Point mutational inactivation of the retinoblastoma antioncogene. Science 243: 937-940 (1989)

76.       Murakami, Y., Masako, Κ., Makino, R., Hayachi, Κ., Hirohachi, S. and Sekiya, T.: Inactivation of the retinoblastoma gene in a human lung carcinoma cell line by single-strand confrontation polymorphism analysis of the PCR product of cDNA. Oncogene 6: 37-42 (1991)

77.       Fearon, E.R., Cho, K.R., Nigro, J.M., Kern, S.E., Simons, J.W., Ruppert, J.M., Hamilton, S.R., Preisinger, A.C., Thomas, G., Kinzler, K.W., Vogelstein, B.: Identification of a chromosome 18q gene that is altered in colorectal cancers. Science 247: 49-56 (1990)

78.       Kinzler, K.W., Nilbert, M.C., Vogelstein, B., Bryan, T.M., Levy, D.B., Smith, K.J., Preisinger, A.C., Hamilton, S R., Hedge, P., Markham, A., et al.: Identification of a gene located at chromosome-5q21 that is mutated in colorectal cancers. Science 251: 1366-1370 (1991)

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