DNA-Based Techniques in Clinical Biochemistry: A Beginner's Guide to Theory and Practice

Malcolm ADB Fallon RA Langdale JA Figueiredo H Nicholls PJ Voss UB DNA probes in human disease. Biochem Soc Symp 1986; 53: 131–43.

Wetmur JG Davidson N. Kinetics of renaturation of DNA. J Mol Biol 1968; 31: 349–70.

Davis LG Dibner MD Battey JF . Basic Methods in Molecular Biology. New York: Elsevier, 1986.

Sambrook J Fritsch E Maniatis T. Molecular Cloning. A Laboratory Manual. 2nd edn., New York: Cold Spring Harbor Laboratory Press, 1990.

Erlich HA , ed. PCR Technology: Principles and Applications for DNA Amplification. New York: Stockton Press, 1989.

Innis MA Gelfand DH Sninsky JJ White TJ . PCR Protocols: A Guide to Methods and Applications. San Diego: Academic Press, 1990.

Vosberg H-P. The polymerase chain reaction: An improved method for the analysis of nucleic acids. Hum Genet 1989; 83: 1–15.

Lynch JR Brown JM . The polymerase chain reaction: Current and future clinical applications. J Med Genet 1990; 27: 2–7.

Eisenstein BI . The Polymerase Chain Reaction. A new method of using molecular genetics for medical diagnosis. N Engl J Med 1990; 322: 178–83.

Berger SL Kimmel AR . (eds). Guide to molecular cloning techniques. Methods in Enzymology, Vol. 152. New York: Academic Press, 1987.

Britten RJ Graham DE Neufield BR . Analysis of repeating DNA sequences by reassociation. Methods Enzymol 1974; 29: 363–418.

Wahl GM Stern M Stark GR . Efficient transfer of large DNA fragments from agarose gels to diazobenzyloxymethyl-paper and rapid hybridisation by using dextran sulfate. Proc Natl Acad Sci USA 1979; 76: 3683–7.

Bouché JP . The effect of spermidine on endonuclease inhibition by agarose contaminants. Anal Biochem 1981; 115: 42–5.

Kunkel LM Smith KD Boyer SH Borgaonkar DS Wachtel SS Miller OJ Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci USA 1977; 74: 1245–9.

Adeli K Ogbonna G. Rapid purification of human DNA from whole blood for potential application in clinical chemistry laboratories. Clin Chem 1990; 36: 261–4.

Miller SA Dykes DD Polesky HF . A simple salting-out procedure for extracting DNA from human nucleated cells. Nucleic Acid Res 1988; 16: 1215.

Old JM . Fetal DNA analysis. In: Davies KE , ed. Human Genetic Diseases a Practical Approach. Oxford: IRL Press, 1986: 1–17.

Southern EM . Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 1975; 98: 503–17.

Church GM Gilbert W. Genomic sequencing. Proc Natl Acad Sci USA 1984; 81: 1991–5.

Murray JC Buetow K Chung D Aschbacher A. Linkage disequilibrium of RFLP's at the beta fibrinogen (FGB) and gamma fibrinogen (FGG) loci on chromosome 4. Cytogen Cell Genet 1986; 40: 707–8.

Humphries SE Cook M Dubowitz M Stirling Y Meade TW . Role of genetic variation at the fibrinogen locus in determination of plasma fibrinogen concentrations. Lancet 1987; i: 1452–5.

Clewell D Helinski D. Effect of growth conditions on the formation of the relaxation complex of supercoiled ColEI deoxyribonucleic acid and protein in Eschericia coli. J Bacteriol 1972; 110: 1135–46.

Radloff R Bauer W Vinograd J. A dye-buoyant-density method for the detection and isolation of closed circular duplex DNA: The closed circular DNA in HeLa cells. Proc Natl Acad Sci USA 1967; 57: 1514–21.

Feinberg AP Vogelstein B. A technique for radiolabelling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 1983; 132: 6–13.

Langer PR Waldrop AA Ward DC . Enzymatic synthesis of biotin-labelled polynucleotides: Novel nucleic acid affinity probes. Proc Natl Acad Sci USA 1981; 78: 6633–7.

Gregersen N Koch J Køluraa S Petersen KB Bolund C. Improved methods for the detection of unique sequences in Southern blots of mammalian DNA by non-radioactive biotinylated DNA hybridization probes. Clin Chim Acta 1987; 169: 267–80.

Lowe JB . Clinical applications of gene probes in human genetic disease, malignancy, and infectious disease. Clin Chim Acta 1986; 157: 1–31.

Whitehead TP Thorpe GHG Carter TJN Groucutt C Kricka LJ . Enhanced chemiluminescent procedure for sensitive determination of peroxidase-labelled conjugates in immunoassay. Nature 1983; 305: 158–9.

Saiki RK Scharf S Faloona F Mullis KB Horn GT Erlich HA Enzymatic amplification of β-globin gene sequences and restriction site analysis for the diagnosis of sickle cell anaemia. Science 1985; 230: 1350–4.

Mullis KB Faloona F Scharf S Saiki R Horn G Erlich H. Specific enzymatic amplification of DNA in vitro: The polymerase chain reaction. Cold Spring Harbor Symp Quant Biol 1986; 51: 263–73.

Mullis KB Faloona FA . Specific synthesis of DNA in vitro via a polymerase-catalysed chain reaction. Methods Enzymol 1987; 155: 335–50.

Newton CR Graham A Heptinstall LE Powell SJ Summers C Kalsheker N Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res 1989; 17: 2503–16.

Newton CR Heptinstall LE Summers C Super M Schwartz M Anwar R Amplification refractory mutation system for prenatal diagnosis and carrier assignment in cystic fibrosis. Lancet 1989; ii: 1481–3.

Newton CR Schwartz M Summers C Heptinstall LE Graham A Smith JC Detection of ΔF₅₀₈ deletion by amplification refractory mutation system. Lancet 1990; 335: 1217–9.

Newton CR Summers C Heptinstall LE Lynch JR Finniear RS Ogilvie D Genetic analysis in cystic fibrosis using the amplification refractory mutation system (ARMS): The J3.11 MspI polymorphism. J Med Genet 1991; 28: 248–51.

Sommer SS Cassady JD Sobell JL Bottema CD . A novel method for detecting point mutations or polymorphisms and its application to population screening for carriers of phenylketonuria. Mayo Clin Proc 1989; 64: 1361–72.

Old JM Varawalla NY Weatherall DJ . Rapid detection and prenatal diagnosis of β-thalassaemia: Studies in Indian and Cypriot populations in the UK. Lancet 1990; 336: 834–7.

Sorscher EJ Huang Z. Diagnosis of genetic disease by primer-specified restriction map modification, with application to cystic fibrosis and retinitis pigmentosa. Lancet 1991; 337: 1115–8.

Hansen PS Rüdiger N Tybjærg-Hansen A Faergerman O Gregersen N. Detection of the apo B-3500 mutation (glutamine for arginine) by gene amplification and cleavage with MspI. J Lipid Res 1991; 32: 1229–33.

Newton CR Kalsheker N Graham A Powell S Gammack A Riley J Diagnosis of α₁-antitrypsin deficiency by enzymatic amplification of human genomic DNA and direct sequencing of polymerase chain reaction products. Nucleic Acids Res 1988; 16: 8233–43.

Mercier B Gaucher C Feugas O Mazurier C. Direct PCR from whole blood, without DNA extraction. Nucleic Acids Res 1990; 18: 5908.

Lench N Stanier P Williamson R. Simple noninvasive method to obtain DNA for gene analysis. Lancet 1988; i: 1356–8.

Kogan S Doherty M Gitschier J. An improved method for pre-natal diagnosis of genetic diseases by analysis of amplified DNA sequences. N Engl J Med 1987; 316: 985–90.

Kazazian HH Jr. Use of PCR in the diagnosis of monogenic disease. In: Erlich HA , ed. PCR Technology: Principles and Applications for DNA Amplification. New York: Stockton Press, 1989: 153–69.

Houlston RS Wenham PR Humphries SE . Detection of apolipoprotein E polymorphisms using PCR/ASO probes and Southern transfer: Application to routine use. Clin Chim Acta 1990; 189: 153–8.

Thein SL Wallace RB . Synthetic oligonucleotides as hybridization probes. In: Davies KE , ed. Human Genetic Diseases a Practical Approach. Oxford: IRL Press, 1986: 33–50.

Funke H Rust S Assmann G. Detection of apolipoprotein E variants by oligonucleotide ‘melting’ procedure. Clin Chem 1986; 32: 1285–9.

Rychlik W Spencer WJ Rhoads RE . Optimization of the annealing temperature for DNA amplification in vitro . Nucleic Acids Res 1990; 18: 6409–12.

Lawyer FC Stoffel S Saiki RK Myambo K Drummond R Gelfand DH . Isolation and characterization, and expression in Eschericia coli of the DNA polymerase gene from Thermus aquaticus. J Biol Chem 1989; 264: 6427–37.

Li HH Gyllensten UB Cui XF Saiki RK Erlich HA Arnheim N. Amplification and analysis of DNA sequences in single human sperm and diploid cells. Nature 1988; 335: 414–7.

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

Williamson R. Molecular genetics and the transformation of clinical chemistry. Clin Chem 1989; 35: 2165–8.

Rommens JM Iannuzzi MC Kerem B-S Drumm ML Melmer G Dean M Identification of the cystic fibrosis gene: Chromosome walking and jumping. Science 1989; 245: 1059–65.

Riordan JR Rommens JM Kerem B-S Alon N Rozmahel R Grzelczak Z Identification of the cystic fibrosis gene: Cloning and characterisation of complementary DNA. Science 1989; 245: 1066–73.

Kerem B-S Rommens JM Buchanan JA Markiewicz D Cox TK Chakravart A Identification of the cystic fibrosis gene: Genetic analysis. Science 1989; 245: 1073–80.

Scheffer H Verlind E Penninga D te Meerman G ten Kate L Buys C. Rapid screening for ΔF₅₀₈ deletion in cystic fibrosis. Lancet 1989; ii: 1345–46.

Mathew CG Roberts RG Harris A Bentley DR Bobrow M. Rapid screening for ΔF₅₀₈ deletion in cystic fibrosis. Lancet 1989; ii: 1346.

Watson EK Mayall E Chappie J Dalziel M Harrington K Williams C Screening for carriers of cystic fibrosis through primary health care services. BMJ 1991; 303: 504–7.

Hoffman EP Kunkel LM . Dystrophin abnormalities in Duchenne/Becker muscular dystrophy. Neuron 1989; 2: 1019–29.

Beggs AH Koenig M Boyce FM Kunkel LM . Detection of 98% DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 1990; 86: 45–8.

Konecki DS Lichler-Konecki U. The phenylketonuria locus: Current knowledge about allele and mutations of the phenylalanine hydroxylase gene in various populations. Hum Genet 1991; 87: 377–88.

Snowden C Houlston RS Arif MH Laker MF Humphries SE Alberti KGMM . Disparity between apolipoprotein E phenotypes and genotypes (as determined by polymerase chain reaction and oligonucleotide probes) in patients with non-insulin-dependent diabetes mellitus. Clin Chim Acta 1991; 196: 49–57.

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

Hixon JE Vernier DT . Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI. J Lipid Res 1990; 31: 545–8.

Wenham PR Price WH Blundell G. Apolipo protein E genotyping by one-stage PCR. Lancet 1991; 337: 1158–9.

Innerarity TL Mahley RW Weisgraber KH Bersot TP Krauss RM Vega GL Familial defective apolipoprotein B-100: A mutation of apolipoprotein B that causes hypercholesterolaemia. J Lipid Res 1990; 31: 1337–49.

Soria LF Ludwig EH Clarke HRG Vega GL Grundy SM McCarthy BJ . Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100. Proc Natl Acad Sci USA 1989; 86: 587–91.

Tybjærg-Hansen A Gallagher J Vincent J Houlston R Talmud P Dunning AM . Familial defective apolipoprotein B-100: Detection in the United Kingdom and Scandinavia, and clinical characteristics of ten cases. Atherosclerosis 1990; 80: 235–42.

Schwartz EI Shevstov SP Kuchinski AP Kovalev YuP Plutalov OV Berlin YuA. Approach to identification of a point mutation in apo B-100 gene by means of a PCR-mediated site-directed mutagenesis. Nucleic Acids Res 1991; 19: 3752.

Wenham PR Newton CR Houlston RS Price WH . Rapid diagnosis of familial defective apolipoprotein B-100 by amplification refractory mutation system. Clin Chem 1991; 37: 1983–7.

Cox DW Levison H. Emphysema of early onset associated with a complete deficiency of alpha-1-antitrypsin (null homozygotes). Am Rev Respir Dis 1988; 137: 371–5.

Anonymous. Congenital adrenal hyperplasia. Lancet 1987; i: 663–4.

Rumsby G Honour JW . In vitro gene amplification for prenatal diagnosis of congenital adrenal hyperplasia. J Med Genet 1990; 27: 676–8.

Frasier SD Thorneycroft IH Weiss BA Horton R. Eleyated amniotic fluid concentration of 17 α-hydroxyprogesterone in congenital adrenal hyperplasia. J Pediatr 1975; 86: 310–2.

Wallace AM Beastall GH Cook B Currie AJ Ross AM Kennedy R Neonatal screening for congenital adrenal hyperplasia: A programme based on a novel direct radioimmunoassay for 17-hydroxyprogesterone. J Endocrinol 1986; 108: 299–308.

Strachan T Sinnott PJ Smeaton I Dyer PA Harris R. Prenatal diagnosis of congenital adrenal hyperplasia. Lancet 1987; ii: 1272–3.

David M Forest MG . Prenatal treatment of congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency. J Pediatr 1984; 105: 799–803.