Laboratory Investigations by DNA Amplification: From Research to Practice

1 Mullis KB Faloona FA Specific synthesis of DNA in vitro via a polymerase-catalysed chain reaction. Methods Enzymol 1986; 155: 335–50.

2 Saiki PK Gelfand DH Stoffel S Germini S Pinzani P Primer-directed enzymatic amplification of DNA in vitro: the polymerase chain reaction. Science 1988; 239: 487–91.

3 Bloch W . A biochemical perspective of the polymerase chain reaction. Biochemistry 1991; 30: 2735–47.

4 Wenham PR DNA-based techniques in clinical biochemistry: A beginner's guide to theory and practice. Ann Clin Biochem 1992; 29: 598–624.

5 Wierzbicki AS The role of the polymerase chain reaction in diagnostic pathology. Commun Lab Med 1992; 5: 95–102.

6 Cooper DN Schmidtke J . Molecular genetic approaches to the analysis and diagnosis of human inherited disease: An overview. Ann Med 1992; 24: 29–42.

7 Williamson R . Molecular genetics and the transformation of clinical chemistry. Clin Chem 1988; 35: 2165–8.

8 Barany F . Genetic disease detection and DNA amplification using cloned thermostable ligase. Proc Natl Acad Sci 1991; 88: 189–93.

9 Hagelberg E Sykes B Hedges R . Ancient bone amplified. Nature 1989; 343: 485.

10 Dieffenbach CW Dveksler GS Setting up a PCR laboratory. PCR Methods Applications 1993; 3: S2–S7.

11 Orrego C . Organising a laboratory for PCR work. In: Innes MA Gelfrand DH Sninsky JJ White TJ , eds. PCR Protocols: a Guide to Methods and Applications. New York: Academic Press, 1990: 447–59.

12 Dragon EA Handling reagents in a PCR laboratory. PCR Methods Applications 1993; 3: S8–S9.

13 Frothingham R Blitchingdon RB Lee DH Greene RC Wilson KH UV absorption complicates PCR decontamination. BioTechn 1992; 13: 208–10.

14 Longo MC Berninger MS Hartley J . Use of uracil DNA glycosylase to control carryover contamination in polymerase chain reaction. Nucl Acid Res 1990; 93: 125–8.

15 Lo Y-MD Patel P Sampietro M Gilmer MDG Fleming KA Wainscoat JS Detection of single copy fetal DNA from maternal blood. Lancet 1990; 335: 1463–5.

16 Don RH Cox PT Wainwright BJ Mattick JS ‘Touchdown’ PCR to circumvent spurious priming during gene amplification. Nucl Acid Res 1991; 19: 4008.

17 Vary CPH Triple helical capture assay for quantification of polymerase chain reaction products. Clin Chem 1992; 38: 687–94.

18 Samaha FJ Quinlan JG Dystrophinopathies: Classification and complications. J Child Neurol 1996; 11: 13–20.

19 Holland PM Abramson RD Watson R Gelfand DH Detection of specific polymerase chain reaction product using the 5′-3′ exonuclease activity of Thermus aquaticus DNA polymerase. Proc Natl Acad Sci 1991; 88: 7276–80.

20 Livak K Flood SJA Marmaro J Giusti W Deetz K . Oligonucleotides with fluorescent dyes at opposite ends provide a quenched probe system useful for detecting PCR product and nucleic acid hybridisation. PCR Methods Applications 1995; 7: 357–62.

21 Siebert PD Lowick DW Competitive PCR. Nature 1992; 359: 557–8.

22 Debuire B Sol O Lemoine A May E . Nonisotopic competitive RT-PCR assay to measure MDR1 gene expression. Clin Chem 1995; 41: 819–26.

23 Sestini R Orlando C Zentilin L Lami D Germini S Pinzani P Gene amplification for c-erbB-2, c-myc, epidermal growth factor receptor, int-2, and N-myc measured by quantitative PCR with a multiple competitor template. Clin Chem 1995; 41: 826–33.

24 Picci L Anglani F Scarpa M Zachello F . Screening for cystic fibrosis gene mutations by multiplex DNA amplification. Hum Genet 1992; 88: 552–6.

25 Cotton RGH Detection of single base changes in nucleic acids. Biochem J 1989; 263: 1–10.

26 Podulso SE Dean M Koch U O'Brien SJ Detecting high resolution polymorphisms in human coding loci by combining PCR and single-strand conformational polymorphism (SSCP) analysis. Am J Hum Genet 1991; 49: 106–11.

27 Wood N Standen G Hows J Bradley B Bidwell J . Diagnosis of sickle-cell disease with a universal heteroduplex generator. Lancet 1993; 342: 1519–20.

28 Rust S Funke H Assman G . Mutagenically separated PCR (MS-PCR): A highly specific one step procedure for easy mutation detection. Nucl Acid Res 1993; 21: 3623–9.

29 Okano Y Eisensmith RC Guttler F Lichter-Konecki U Konecki DS Trefz FK Molecular basis of phenotypic heterogeneity in phenylketonuria. N Engl J Med 1991; 324: 1232–8.

30 St Pierre B Neustock P Schramm U Wilhelm D Kirchner H Bein G . Seasonal breakdown of polymerase chain reaction. Lancet 1994; 343: 673.

31 de Lomas JG Sunzeri FJ Busch MP False-negative results by polymerase chain reaction due to contamination by glove powder. Transfusion 1992; 32: 83–5.

32 Zaaijer HL Cuypers HTM Reesink HW Winkel IN Gerken G Lelie PN Reliability of polymerase chain reaction for detection of hepatitis C virus. Lancet 1993; 343: 722–4.

33 Findlay JB Atwood SM Bermeyer L Chemelli J Chrifty K . Cummins T, et al. Automated closed vessel system for in vitro diagnostics based on polymerase chain reaction. Clin Chem 1993; 39: 1927–33.

34 DiDomenico N Link H Knobel R Cratsch T Weschler W Loewy ZG COBAS AMPLICOR: Fully automated RNA and DNA amplification and detection system for routine diagnostic PCR. Clin Chem 1996; 42: 1915–24.

35 MacCallum LJ Detection of PCR products, Table 2. In: Newton CR . PCR: Essential Data. Chichester: John Wiley, 1995: 99–126.

36 Dickson D . Patent enzymes may re-ignite old controversy: News. Nature 1994; 372: 212.

37 Dickson D . Roche fails to get European Taq patent: News. Nature 1996; 382: 100.

38 Dickson D . Roche claims victory in bid for European Taq patent: News. Nature 1996; 384: 100.

39 Adler RG Genome research: Fulfilling the public's expectations of knowledge and commercialisation. Science 1992; 257: 908–14.

40 Lindblad K Schalling M . Clinical implications of unstable DNA repeat sequences. Acta Paediatrica 1996; 85: 265–71.

41 Snow K Donal LK Hagerman R Pergolizz RG Erstor SH Thibodeau SN Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population. Am J Hum Genet 1993; 53: 1217–28.

42 Jacobs PA Bullman H Matheson J . Population studies of the fragile X: A molecular approach. J Med Genet 1993; 30: 454–9.

43 MacMillan JC Snell RG Tyler A Houlihan D Fenton L Cheadle P Molecular analysis and clinical correlations of Huntington's disease mutation. Lancet 1993; 342: 954–8.

44 Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Ceil 1993; 72: 971–83.

45 Nasir J Goldberg YP Hayden MR Huntington disease: New insights into the relationship between CAG expansion and disease. Hum Mol Genet 1996; 5: 1431–7.

46 Raeburn S . Screening for carriers of cystic fibrosis. BMJ 1994; 308: 1451–2.

47 Scriver CR Fujiwara TM Invited editorial: Cystic fibrosis genotypes and views on screening are both heterogeneous and population related. Am J Hum Genet 1992; 51: 943–50.

48 Livingstone J Axton RA Gilfillian A Mennie ME Compton M Liston WA Antenatal screening for cystic fibrosis: A trial of the couple model. BMJ 1994; 308: 1459–67.

49 Mennie ME Gilfillian A Compton M Curtis L Liston WA Pullen I Prenatal screening for cystic fibrosis. Lancet 1992; 340: 214–6.

50 Norgaard-Pedersen B Hogdall E Iitia A Arends J Dahlen P Vurst J . Immunoreactive trypsin and a comparison of two ΔF508 mutation analyses in newborn screening for cystic fibrosis: An anonymous pilot study in Denmark. Screening 1993; 2: 1–11.

51 Ranieri E Lewis BD Gerace RL Ryall RG Morris CP Nelson PV Neonatal screening for cystic fibrosis using immunoreactive trysinogen and direct gene analysis: Four year's experience. BMJ 1994; 308: 1469–72.

52 Wenham PR Sedky A Spooner RJ Apolipoprotein E phenotyping: A word of caution. Ann clin Biochem 1991; 28: 599–605.

53 Appel E Eisenberg S Roitelman J . Improved PCR amplification/Hhal restriction for unambiguous determination of apolipoprotein E alleles. Clin Chem 1995; 41: 187–90.

54 Corder EH Saunders AM Strittmatter WJ Schmechel DE Gaskell PC Small GW Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science 1993; 261: 921–3.

55 Saunders AM Hulette C Welsh-Bohmer KA Schmechel ME Crain B Burke JR Specificity, sensitivity, and predictive value of apolipoprotein-E genotyping for sporadic Alzheimer's disease. Lancet 1996; 348: 90–3.

56 National Institute for Aging/Alzheimer's Association Working Group. Apolipoprotein E genotyping in Alzheimer's disease: A consensus statement. Lancet 1996; 347: 1091–5.

57 Cambien F Piorier O Lecerf L Evans A Cambou JF Arveilor D Deletion polymorphism in the gene for angiotensin-converting enzyme is a potent risk factor for myocardial infarction. Nature 1992; 359: 641–4.

58 Samani NJ Thompson JR O'Toole L Channer K Woods KL A meta-analysis of the association of the angiotensin-converting enzyme gene with myocardial infarction. Circulation 1996; 94: 708–12.

59 Fogarty DG Maxwell AP Doherty CC Hughes AE Nevin NC ACE gene typing. Lancet 1994; 343: 851.

60 Ueda S Heeley RP Lees KR Elliott HL Connell JMC Mistyping the human angiotensin-converting enzyme gene polymorphism: Frequency, causes and possible methods to avoid errors. J Mod Endocrinol 1996; 17: 27–30.

61 Editorial. Screening for colorectal cancer by stool DNA analysis. Lancet 1992; 339: 1141–2.

62 Israeli RS Miller WH Su SL Powell CT Fair WR Samadi D Sensitive nested reverse transciption polymerase chain reaction detection of circulating prostatic tumour cells. Comparison of prostate-specific membrane antigen and prostate-specific antigen-based assays. Cancer Res 1994; 54: 6306–10.

63 Jaakkola S Vornanen T Leinonen J Rannikko S Stenman U-H. Detection of prostatic cells in peripheral blood: Correlation with serum concentrations of prostate-specific antigen. Clin Chem 1995; 41: 182–6.

64 Chelly J Kaplan JC Maire P Gautron S Lahn A . Transcription of the dystrophin gene in human muscle and non-muscle tissues. Nature 1988; 333: 858–60.

65 Fonknechten N Chelly J Lepercq J Kahn A Kaplan J-C Chomel J-C. CFTR illegitimate transcription in lymphoid cells: Quantification and applications to the investigation of pathological transcripts. Hum Genet 1992; 88: 508–12.

66 Harper PS Insurance and genetic testing. Lancet 1993; 341: 224–7.

67 Nuffield Council on Bioethics. Genetic Screening: Ethical Issues. London: Nuffield Council on Bioethics, 1993.

68 Watson EK Mayall ES Lamb J Chappie J Williamson R . Psychological and social consequences of community carrier screening programme for cystic fibrosis. Lancet 1992; 340: 217–20.