1. Kessler HH, Muhlbauer G, Stelzl E, Daghofer E, Santner BI, Marth E. Fully automated nucleic acid extraction: MagNA Pure LC. Clin Chem. 2001;47:1124-1126.

2. Fiebelkorn KR, Lee BG, Hill CE, Caliendo AM, Nolte FS. Clinical evaluation of an automated nucleic acid isolation system. Clin Chem. 2002;48:1613-1615.

3. Williams SM, Meadows CA, Lyon E. Automated DNA extraction for real-time PCR. Clin Chem. 2002;48:1629-1630.

4. Davies J, Reznikoff WS, eds. Milestones in Biotechnology: Classic Papers on Genetic Engineering. Boston: Butterworth-Heinemann; 1992.

5. Wasserman LM. A nested reverse-transcriptase-polymerase chain reaction assay to detect BCR/ABL. In: Killeen AA, ed. Methods in Molecular Medicine Molecular Pathology Protocols. Totowa, NJ: Humana Press; 2001:105-114.

6. Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A. 1977;74:5463-5467.

7. Esch RK. Basic nucleic acid procedures. In: Coleman WB, Tsongalis GJ, eds. Molecular Diagnostics for the Clinical Laboratorian. Totowa, NJ: Humana Press; 1997:55-58.

8. Schmaizing D, Koutny L, Salas-Solano O, Adourian A, Matsudaira P, Ehrlich D. Recent developments in DNA sequencing by capillary and microdevice electrophoresis [review]. Electrophoresis. 1999;20:3066-3077.

9. Farkas DH. Specimen procurement, processing, tracking, and testing by the Southern blot. In: Farkas DH, ed. Molecular Biology and Pathology: A Guidebook for Quality Control. San Diego: Academic Press; 1993:51-75.

10. Farkas DH. Quality control of the B/T cell gene rearrangement test. In: Farkas DH, ed. Molecular Biology and Pathology: A Guidebook for Quality Control. San Diego: Academic Press; 1993:77-101.

11. Mullis K,Faloona F, Schart S,Saiki R,Horn G,Erlich H.Specific enzymatic amplification of DNA in vitro: the polymerase chain reaction. Cold Spring Harb Symp Quant Biol. 1986;51:263-273.

12. Farkas DH. Thermal cyclers. In: Laboratory Instrument Evaluation Verification and Maintenance Manual. Northfield, IL: College of American Pathologists; 1998:130-133.

13. Loeffelholz MJ, Lewinski CA, Silver SR, et al. Detection of Chla-mydia trachomatis in endocervical specimens by polymerase chain reaction. J Clin Microbiol. 1992;30:2847-2851.

14. DiDomenico N, Link H, Knobel R, et al. COBAS AMPLICOR™: fully automated RNA and DNA amplification and detection system for routine diagnostic PCR. Clin Chem. 1996;42:1915-1923.

15. Greenfield L, White TJ. Sample preparation methods. In: Persing DH, Smith TF, Tenover FC, White TJ, eds. Diagnostics Molecular Microbiology Principles and Applications. Washington, DC: American Society for Microbiology; 1993:126-127.

16. Liu XY, Nelson D, Grant C, Morthland V, Goodnight SH, Press RD. Molecular detection of a common mutation in coagulation factor V causing thrombosis via hereditary resistance to activated protein C. Diagn Mol Pathol. 1995;3:191-197.

17. Linderman R, Hu SP, Volpato F, Trent RJ. Polymerase chain reaction mutagenesis enabling rapid nonradioactive detection of common ß-thalassaemia mutations in Mediterraneans. Br J Haematol. 1991; 78:100.

18. Sorscher EJ, Huang Z. Diagnosis of genetic disease by primer-specified restriction map modification, with application to cystic fibrosis and retinitis pigmentosa. Lancet. 1991;11:1115-1118.

19. Khanna M, Park P, Zirvi M, et al. Multiplex PCR/LDR for detection of K-ras mutations in primary colon tumors. Oncogene. 1999;18: 27-38.

20. McMillin DE, Muldrow LL, Laggette SJ. Simultaneous detection of toxin A and toxin B genetic determinants of Clostridium difficile using the multiplex polymerase chain reaction. Can J Microbiol. 1992;38:81-83.

21. Sugita T, Nakajima M, Ikeda R, Niki Y, Matsushima T, Shinoda T. A nested PCR assay to detect DNA in sera for the diagnosis of deep-seated trichosporonosis. Microbiol Immunol. 2001;45:143-148.

22. Ferrie RM, Schwarz MJ, Robertson NH, et al. Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene. Am J Hum Genet. 1992;51:251-262.

23. Bugawan TL, Begovich AB, Erlich HA. Rapid HLA-DPB typing using enzymatically amplified DNA and nonradioactive sequence-specific oligonucleotide probes. Immunogenetics. 1990;32:231-241.

24. Nickerson DA, Kaiser R, Lappin S, Stewart J, Hood L, Landegren U. Automated DNA diagnostics using an ELISA-based oligonucleotide ligation assay. Proc Natl Acad Sci U S A. 1990;87:8923-8927.

25. Jarvius J, Nilsson M, Landegren U. Oligonucleotide ligation assay. Methods Mol Biol. 2003;212:215-228.

26. Howell WM, Jobs M, Gyllensten U, Brookes AJ. Dynamic allele-specific hybridization. Nat Biotechnol. 1999;17:87-88.

27. Baltimore D. Viral RNA-dependent DNA polymerase. Nature. 1970;226:1209-1211.

28. Bustin SA. Absolute quantification of mRNA using real-time reverse transcription polymerase chain reaction assays. J Mol Endocrinol. 2000;25:169-193.

29. Lay MJ, Wittwer CT. Real-time fluorescence genotyping of factor V Leiden during rapid-cycle PCR. Clin Chem. 1997;43:2262-2267.

30. Bernard PS, Wittwer CT. Real-time PCR technology for cancer diagnostics. Clin Chem. 2002;48:1178-1185.

31. Olek A, Oswald J, Walter JAA. A modified and improved method of bisulfite based cytosine methylation analysis. Nucleic Acids Res. 1996;24:5064-5066.

32. Herman JG, Graff JR, Myöhänen S, Nelkin BD, Baylin SB. Methyla-tion specific PCR: a novel PCR assay for methylation status of CpG islands. Proc Natl Acad Sci U S A. 1996;93:9821-9826.

33. Lo Y, Wong I, Zhang J, Tein M, Ng M, Hjelm N. Quantitative analysis of aberrant p16 methylation using real-time quantitative methyla-tion-specific polymerase chain reaction. Cancer Res. 1999;59:3899-3903.

34. Fodde R, Losekoot M. Mutation detection by denaturing gradient gel electrophoresis (DGGE). Hum Mutat. 1994;3:83-94.

35. Lerman LS, Beldjord C. Comprehensive mutation detection with denaturing gradient gel electrophoresis. In: Cotton RGH, Edkins E, Forrest S, eds. Mutation Detection: A Practical Approach. Oxford: Oxford University Press; 1998:35-59.

36. Rosenbaum V, Riesner D. Temperature-gradient gel electrophoresis: thermodynamic analysis of nucleic acids and proteins in purified form and in cellular extracts. Biophys Chem. 1987;26:235-246.

37. Riesner D, Henco K, Steger G. Temperature-gradient gel elec-trophoresis: a method for the analysis of conformational transitions and mutations in nucleic acids and proteins. Adv Electrophoresis. 1991;4:169-250.

38. 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.

39. De Braekeleer M, Mari C, Verlingue C, et al. Complete identification of cystic fibrosis transmembrane conductance regulator mutations in the CF population of Saguenay Lac-Saint-Jean (Quebec, Canada). Clin Genet. 1998;53:44-46.

40. Alkan S, Cosar E, Ergin M, Hsi E. Detection of T-cell receptor-gamma gene rearrangement in lymphoproliferative disorders by temperature gradient gel electrophoresis. Arch Pathol Lab Med. 2001;125: 202-207.

41. Nagamine CM, Chan K, Lau YF. A PCR artifact: generation of het-eroduplexes. Am J Hum Genet. 1989;45:337-339.

42. Bhattacharyya A, Lilley DM. The contrasting structures of mismatched DNA sequences containing looped-out bases (bulges) and multiple mismatches (bubbles). Nucleic Acids Res. 1989;17:6821-6840.

43. Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T. Detection of polymorphisms of human DNA by gel electrophoresis as singlestrand conformation polymorphisms. Proc Natl Acad Sci U S A. 1989;86:2766-2770.

44. Hayashi, K. PCR-SSCP: a simple and sensitive method for detection of mutations in the genomic DNA. PCR Methods Appl. 1991;1:34-38.

45. Liu Q, Feng J, Buzin C, et al. Detection of virtually all mutationssingle stranded conformational polymorphisms (DOVAM-S): a rapid method for mutation scanning with virtually 100% sensitivity. Biotechniques. 1999;26:932-942.

46. Widjojoatmodjo MC, Fluit AC, Verhoef J. Molecular identification of bacteria by fluorescence-based PCR-single-strand-conformation polymorphism of the 16S rRNA gene. J Clin Microbiol. 1995;33: 2601-2606.

47. Liu W, Smith DI, Rechtzigel KJ, Thibodeau SN, James CD. Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations. Nucleic Acids Res. 1998;26:1396-1400.

48. O'Donovan MC, Oefner PJ, Roberts SC, et al. Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection. Genomics. 1998;52:44-49.

49. Wagner T, Stoppa-Lyonnet D, Fleischmann E, et al. Denaturing highperformance liquid chromatography detects reliably BRCA1 and BRCA2 mutations. Genomics. 1999;62:369-376.

50. 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;2:1719-1721.

51. Pohlreich P, Stribrna J, Kleibl Z, et al. Mutations of the BRCA1 gene in hereditary breast and ovarian cancer in the Czech Republic. Med Princ Pract. 2003;12:23-29.

52. Zajac V, Kovac M, Kirchhoff T, Stevurkova V, Tomka M. The most frequent APC mutations among Slovak familial adenomatous poly-posis patients. Neoplasma. 2002;49:356-361.

53. Laffler TG, Carrino JJ, Marshall RL. The ligase chain reaction in DNA-based diagnosis. Ann Biol Clin (Paris). 1993;51:821-826.

54. Burczak JD, Ching S, Hu H-Y, Lee HH. Ligase chain reaction for the detection of infectious agents. In: Wiedbrauk DL, Farkas DH, eds. Molecular Methods for Virus Detection. San Diego: Academic Press; 1995:315-328.

55. Mahony J, Chong S,Jang D, et al. Urine specimens from pregnant and nonpregnant women inhibitory to amplification of Chlamydia trachomatis nucleic acid by PCR, ligase chain reaction, and transcription-mediated amplification: identification of urinary substances associated with inhibition and removal of inhibitory activity. J Clin Microbiol. 1998;36:3122-3126.

56. Gorrin G, Friesenhahn M, Lin P, et al. Performance evaluation of the VERSANT HCV RNA qualitative assay by using transcription-mediated amplification. J Clin Microbiol. 2003;41:310-317.

57. Walker GT, Little MC, Nadeau JG, Shank DD. Isothermal in vitro amplification of DNA by a restriction enzyme/DNA polymerase system. Proc Natl Acad Sci U S A. 1992;89:392-396.

58. Westin L, Xu X, Miller C, Wang L, Edman CF, Nerenberg M. Anchored multiplex amplification on a microelectronic chip array. Nat Biotech-nol. 2000;18:199-204.

59. Sooknanan R, van Gemen B, Malek LT. Nucleic acid sequence-based amplification. In: Wiedbrauk DL, Farkas DH, eds. Molecular Methods for Virus Detection. San Diego: Academic Press; 1995:261-285.

60. Polstra AM, Goudsmit J, Cornelissen M. Development of real-time NASBA assays with molecular beacon detection to quantify mRNA coding for HHV-8 lytic and latent genes. BMC Infect Dis. 2002;2:18.

61. Baeumner AJ, Cohen RN, Miksic V, Min J. RNA biosensor for the rapid detection of viable Escherichia coli in drinking water. Biosens Bioelectron. 2003;18:405-413.

62. Spadoro JP, Dragon EA. Quality control of the polymerase chain reaction. In: Farkas DH, ed. Molecular Biology and Pathology: A

Guidebook for Quality Control. San Diego: Academic Press; 1993: 149-158.

63. Wilber JC. Branched DNA for quantification of viral load. Immunol Invest. 1997;26:9-13.

64. Nolte FS. Branched DNA signal amplification for direct quantitation of nucleic acid sequences in clinical specimens. Adv Clin Chem. 1998;33:201-235.

65. Elbeik T, Alvord WG, Trichavaroj R, et al. Comparative analysis of HIV-1 viral load assays on subtype quantification: Bayer Versant HIV-1 RNA 3.0 versus Roche Amplicor HIV-1 Monitor version 1.5. J Acquir Immune Defic Syndr. 2002;29:330-339.

66. Gleaves CA, Welle J, Campbell M, et al. Multicenter evaluation of the Bayer VERSANT HIV-1 RNA 3.0 assay: analytical and clinical performance. J Clin Virol. 2002;25:205-216.

67. Hann HW, Fontana RJ, Wright T, et al. A United States compassionate use study of lamivudine treatment in nontransplantation candidates with decompensated hepatitis B virus-related cirrhosis. Liver Transpl. 2003;9:49-56.

68. Hendricks DA, Stowe BJ, Hoo BS, et al. Quantitation of HBV DNA in human serum using a branched DNA (bDNA) signal amplification assay. Am J Clin Pathol. 1995;104:537-546.

69. Martinot-Peignoux M, Boyer N, Colombat M, et al. Serum hepatitis B virus DNA levels and liver histology in inactive HBsAg carriers. J Hepatol. 2002;36:543-546.

70. Pawlotsky JM, Bastie A, Hezode C, et al. Routine detection and quantification of hepatitis B virus DNA in clinical laboratories: performance of three commercial assays. J Virol Methods. 2000;85: 11-21.

71. Beld M, Sentjens R, Rebers S, et al. Performance of the new Bayer VERSANT HCV RNA 3.0 assay for quantitation of hepatitis C virus RNA in plasma and serum: conversion to international units and comparison with the Roche COBAS Amplicor HCV Monitor,Version 2.0, assay. J Clin Microbiol. 2002;40:788-793.

72. Trimoulet P, Halfon P, Pohier E, Khiri H, Chene G, Fleury H. Evaluation of the VERSANT HCV RNA 3.0 assay for quantification of hepatitis C virus RNA in serum. J Clin Microbiol. 2002;40:2031-2036.

73. Lorincz A, Anthony J. Hybrid capture: a system for nucleic acid detection by signal amplification technology. In: Van Dyke C,

Woodfork K, eds. Luminescence Biotechnology: Instruments and Applications. Boca Raton, FL: CRC Press; 2002:149-158.

74. Mazzulli T, Drew LW, Yen-Lieberman B, et al. Multicenter comparison of the Digene hybrid capture CMV DNA assay (version 2.0), the pp65 antigenemia assay, and cell culture for detection of cytomegalovirus viremia. J Clin Microbiol. 1999;37:958-963.

75. Schachter J, Hook EW III, McCormack WM, et al. Ability of the Digene hybrid capture II test to identify Chlamydia trachomatis and Neisseria gonorrhoeae in cervical specimens. J Clin Microbiol. 1999;37:3668-3671.

76. Kessler HH, Pierer K, Dragon E, et al. Evaluation of a new assay for HBV DNA quantitation in patients with chronic hepatitis B. Clin Diagn Virol. 1998;9:37-43.

77. Lorincz A. Hybrid capture method for detection of human papilloma virus DNA in clinical specimens. Pap Rep. 1996;7:1-5.

78. Guan X-Y, Zhang H, Bittner M, Jiang Y, Meltzer P, Trent J. Chromosome arm painting probes. Nature Genet. 1996;12:10-11.

79. Dyanov HM, Dzitoeva SG. Method for attachment of microscopic preparations on glass for in situ hybridization, PRINS, and in situ PCR studies. Biotechniques. 1995;18:823-826.

80. Schrock E, du Manoir S, Veldman T, et al. Multicolor spectral kary-otyping of human chromosomes. Science. 1996;273:494-497.

81. du Manoir S, Speicher MR, Joos S, et al. Detection of complete and partial chromosome gains and losses by comparative genomic in situ hybridization. Hum Genet. 1993;90:590-610.

82. Hachitanda Y, Toyoshima S, Akazawa K, Tsuneyoshi M. N-myc gene amplification in rhabdomyosarcoma detected by fluorescence in situ hybridization: its correlation with histologic features. Mod Pathol. 1998;11:1222-1227.

83. Ekins R, Chu FW. Microarrays: their origins and applications. Trends Biotechnol. 1999;17:217-218.

84. Descamps D, Calvez V, Collin G, et al. Line probe assay for detection of human immunodeficiency virus type 1 mutations conferring resistance to nucleoside inhibitors of reverse transcriptase: comparison with sequence analysis. J Clin Microbiol. 1998;36:2143-2145.

85. Evans JG, Lee-Tataseo C. Determination of the factor V Leiden single-nucleotide polymorphism in a commercial clinical laboratory by use of NanoChip microelectronic array technology. Clin Chem. 2002;48:1406-1411.

Section I

Was this article helpful?

0 0

Post a comment